Inhaltspezifische Aktionen

Publikationen

Inhaltspezifische Aktionen

2024

  • Reis, MC, Härtel F, Richter AM, Weiß M, Mösle LT, Dammann RH, Nolte D. Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of KCNC3 (2024) Int. J. Mol. Sci. 2024, 25(22), 12444; https://doi.org/10.3390/ijms252212444 (registering DOI) Submission received: 25 October 2024 / Revised: 13 November 2024 / Accepted: 14 November 2024 / Published: 20 November 2024
  • Reis MC, Mandler L, Kang JS, Oliver D, Halaszovich C, Nolte D. A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22. J Cell Mol Med. 2024 Aug;28 (16):e70039. doi: 10.1111/jcmm.70039. PMID: 39180521.
  • Farrell, K., Humphrey, J., Chang, T. … Müller, U. … Naj, A. (total of 58 authors) Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. (2024) Nat Commun 15, 7880, https://doi.org/10.1038/s41467-024-52025-x
  • Hui Wang, Timothy S. Chang, Beth A. Dombroski, .....Ulrich Müller, ....Wan‑Ping Lee. (total of 61 authors) Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. Wang et al. Molecular Neurodegeneration (2024) 19:61; https://doi.org/10.1186/s13024-024-00747-3

     

     

Inhaltspezifische Aktionen

2022

  • Reis MC, Patrun J, Ackl N, Winter P, Scheifele M, Danek A, Nolte D. A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions. Front Mol Neurosci. 2022 Apr 14;15:878236. doi: 10.3389/fnmol.2022.878236. PMID: 35493319; PMCID: PMC9048483.

  • Franziska Hopfner, Anja K. Tietz, Viktoria C. Ruf, Owen A. Ross, Shunsuke Koga, ........, Ulrich Müller, Gerard D. Schellenberg, Jochen Herms, Gregor Kuhlenbäumer, Günter Höglinger. Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy. Mov Disord. 2022 Aug 23.doi: 10.1002/mds.29164. Online ahead of print.

Inhaltspezifische Aktionen

2021

  • Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Ann Neurol. 2021 Jul;90(1):143-158.

  • Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z

  • Nolte, D., Kang, JS., Hofmann, A. Schwaab E., Krämer HH., Müller U. : Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. J Neurol (2021). doi.org/10.1007/s00415-021-10607-5

  • Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann,Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig1, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna,Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König & Ana Westenberger.Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun 12 , 3216 (2021). https://doi.org/10.1038/s41467-021-23491-4

  • Müller, U (2021) Spinocerebellar ataxias (SCAs) caused by common mutations. Neurogenetics 22: 235-250; https://doi.org/10.1007/s10048-021-00662-5

     

Inhaltspezifische Aktionen

2020

  • Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.: An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374.doi: 10.1111/nan.12580. Epub 2019 Oct 24.

Inhaltspezifische Aktionen

2019

  • Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F.:Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25. PMID: 30910913

  • K. Stegen, L. Loeffler, T. Zuleger, A. Skodras, L. Schwarz, B. Maure, L. Wang, D.Grossmann, P. May, A. Velic, B. Macek, U. Müller, G. U. Höglinger, H. Houlden, M. A. DeTure, B. F. Boeve, G. Machetanz, J. Q. Trojanowski, M. Sharma, O. A. Ross, Z. K. Wszolek, O. Riess, D. W. Dickson, A. Riess, T. Proikas-Cezanne, R. Krüger, J. C. Fitzgerald: Dysfunction of the Cation Exchanger NHE6 Disrupts the Endosomal-Lysosomal System in Corticobasal Syndrome Models. Mol. Neurodegen., in press
  • T. Roesler, A. Tayaranian Marvian, M. Brendel, N.-P. Nykänen, M. Höllerhage, S. Schwarz, F. Hopfner, T. Koeglsperger, G. Respondek, K. Schweyer, J. Levin, V. Villemagne, H. Barthel, O. Sabri, U. Müller, W. Meissner, G. Kovacs, G. Höglinger: Four-repeat tauopathies. Prog. Neurobiol:180; September 2019, 101644
Inhaltspezifische Aktionen

2018

  • Rösler TW, Salama M, Shalash AS, Khedr EM, El-Tantawy A, Fawi G, El-Motayam A, El-Seidy E, El-Sherif M, El-Gamal M, Moharram M, El-Kattan M, Abdel-Naby M, Ashour S, Müller U, Dempfle A, Kuhlenbäumer G, Höglinger GH: K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson´s disease in Egypt. Scientific Reports (2018) 8:16525| DOI:10.1038 /s41598-018-35003-4

  • Jabbari E, Woodside J, Tan M,  Shoai M, ....., Müller U, ....., Hoeglinger G, Holton J, Ryten M,  Morris H (2018) Variation at the TRIM11 locus modifies Progressive Supranuclear Palsy phenotype; Ann. Neurol, 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15.
  • Weber A, Schwarz S, Tost J, Trümbach D, Winter P, .........Höglinger G & Müller U: Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1. doi.org/10.1038/s41467-018-05325-y, Nature Communications 9: 2929 (2018)
  • Karch CM, Wen N, ..., Müller U, ... Desikan RS: Selective genetic overlap between amyotrophic lateral sclerosis and diseases of the frontotemporal dementia spectrum. JAMA Neurology, JAMA NEurol. 2018 75 (7): 860-875. doi: 10.1001/ Jamaneurol.2018.0372
  • Bragg DC, …. Müller U, …. Breakefield XO, Sharmaa N, Ozelius LJ: Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci USA, 2017 Dec 19;114(51):E11020-E11028. doi: 10.1073/pnas.1712526114. Epub 2017 Dec 11.
  • Bonham LW, Karch CM, … Müller, U., … Desikan RS: CXCR4 involvement in neurodegenerative diseases. Translational Psychiatry, Transl Psychiatry, 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

  • Broce I, Karch CM, … Müller U, … Desikan RS, Sugrue LP: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Med 15(1): e1002487 (2018) https://doi.org/10.1371/journal.pmed.1002487

  • Aneichyk T, Hendriks WT , Yadav R, Shin D,  Gao D, … Müller U …,  Ozelius LJ, Bragg CD, Talkowski ME: Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172: 897-909 (2018); doi:10.1016/j.cell.2018.02.009
Inhaltspezifische Aktionen

2017

  • Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Am J Med Genet A. 2017 Apr;173(4):959-965

  • Müller U, Auburger, G, Graeber MB, Ptacek LJ: Developing the field of Neurogenetics. Neurogenetics 18:183–184 (2017); doi.org/10.1007/s10048-017-0530-8

  • Tallaksen CME, Müller U: Cancer and neurodegeneration. Neurology 88 (12): 1106-1107 (2017) doi:10.1212/WNL0000000000003727
  • Bruch j, Xu H, Rösler TW, DeAndrade A, Kkkuhn P-H, Lichtenthaler SF, Arzberger T, Winklhofer KF, Müller U, Höglinger GU: PERK activation mitigates tau pathology in vitro and in vivo. EMBO Mol Med 9: 371-384 (2017) doi: 10.15252/emmm.201606664
  • Skopkova M, Hennig F, Shin B-S,... Müller U, ..., Dever TE, Kalscheuer VM: EIF2S3 mutations associated with sevwere X-linked intellectual disability syndrome MEHMO. Hum. Mutat 38: 409-425 (2017) doi: 10.10002/humu.23170j
  • Yokoyama JS,..., Müller U, ... Desikan RS: Shared genetic risk between corticobasal degeneration , progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 133: 825-837 (2017) doi: 10.1007/s00401-017-1693-y
  • Respondek G, ..., Müller U, ..., Stamelou M, Höglinger GU: Which ante mortem clinical features predict progressive supranuclear palsy pathology? Mov. Disord. 32: 995-1005 (2017); doi: 10.1002/mds.27034
  • Höglinger GU, Respondek G, Stamelou M, ...Müller U, ... , Litvan I: Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. Mov. Disord. 32: 853-864 (2017) doi: 10.1002/mds.26987
Inhaltspezifische Aktionen

2016

  • Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A. Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. Neuropediatrics. 2016 Jun;47(3):197-201

  • Müller U, Bertram L: Die Genetik der Alzheimer-Krankheit. Deutsche Alzheimer Gesellschaft, Informationsblatt 4 (2016)

  • Weber A, Kreth J, Müller U: Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family. BMC Med Genet 17:16 (2016) doi:10.1186/s12881-016-0281-7

  • Tatura R, Buchholz M, Dickson DW, van Swieten J, McLean C, Höglinger G, Müller U: microRNA profiling: increased expression of miR-147a and miR-51o8e in progressive supranuclear palsy (PSP). Neurogenetics 17: 165-171 (2016) doi: 10.1007/s10048-016-0480-6

  • Tatura R, Kraus T, Giese A, Arzberger T, Buchholz M, Höglinger G, Müller U: Parkinson´s disease: SNCA-, PARK2-, and LRRK2-targeting microRNAs elevated in cingulate gyrus. Parkinsonism Relat Disord. 33:115-121 (2016) doi: 10.1016/j.parkreldis.2016.09.028.
  • Hu H, Haas SA,..., Müller U,... Kalscheuer VM: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol. Psychiatry 21(1):133-148 (2016) doi: 10.1038/mp.2014.193
Inhaltspezifische Aktionen

2015

  • Lübking A, Vosberg S, Konstandin NP, Dufour A, Graf A, Krebs S, Blum H, Weber A, Lenhoff S, Ehinger M, Spiekermann K, Greif PA, Cammenga J. Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. Leuk Res Rep. 2015 Oct 17;4(2):72-5

  • Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM (2015) X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molec Psych; 21:133-148 (2016), doi: 10.1038/mp.2014.193

  • Kouri N, Ross OA,..., Müller U,..., Schellenberg GD, Dickson D: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. Nat Commun 6: 7247 (2015) doi: 10.1038/ncomms8247
  • Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA: Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial alzheimer´s disease. J Neural Transm 122(12):1715-1719 (2015) doi: 10.1007/s00702-015-1450-0
Inhaltspezifische Aktionen

2014

Humangenetik, Publikationen 2014

Inhaltspezifische Aktionen

2013

Humangenetik, Publikationen 2013

 

Inhaltspezifische Aktionen

2012

Humangenetik, Publikationen 2012

 

  • Weber A, Taube S, zur Stadt U, Horstmann M, Krohn K, Bradtke J, Teigler-Schlegel A, Leiblein S, Christiansen H. Quantification of minimal residual disease (MRD) in acute lymphoblastic leukemia (ALL) using amplicon-fusion-site polymerase chain reaction (AFS-PCR). Experimental Hematology & Oncology 2012 1:33
  • Winter P, Kamm C, Biskup S, Köhler A, Leube B, Auburger G, Gasser T, Benecke R, Müller U: DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. Mov Disord 27: 1820-1822 (2012)
  • Palada V, Stiern S, Glöckle N, Gómez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, Müller U, Bauer P, Riess O, Ott T, Grundmann K: Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients. Mov Disord 27: 917 (2012)
  • Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohamed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock A, Szepetowski P, Fu YH, Ptáček LJ: Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 1: 2–12 (2012)
  • Weber A, Taube S, zur Stadt U, Horstmann M, Krohn K, Bradtke J, Teigler-Schlegel A, Leiblein S, Christiansen H. Quantification of minimal residual disease (MRD) in acute lymphoblastic leukemia (ALL) using amplicon-fusion-site polymerase chain reaction (AFS-PCR). Experimental Hematology & Oncology 2012 1:33
Inhaltspezifische Aktionen

2011

Humangenetik, Publikationen 2011

 

  • Müller U: Discovery of MSX2 mutation in craniosynostosis: A retrospective view. Monographs in Human Genetics, 19: 8-12 (2011)
  • Müller U: Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC). Neurogenetics, 12:175-181 (2011) DOI 10.1007s10048-011-0280-y
  • Müller U, Winter P, Graeber MB: Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. Arch Neurol 68:1210-1211 (2011)
  • Höglinger GU, Müller U: Durchbruch bei der Erforschung der PSP. DNP 12:19 (2011)
  • Höglinger GU, Melhem NM, Dickson DW, Sleiman PMA, Wang L-S, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, PSP Genetics Study Group, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu C-E, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD: Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (corresponding authors: Ulrich Müller, Gerald Schellenberg.) Nat Genet 43: 699-705 (2011)
    s.a. Pressemitteilung der Deutschen Gesellschaft für Neurologie
  • Gu H, Wei X, Chen S, Kurz A, Müller U, Gasser T, Dodel RC, Farlow MR, Du Y: Association of Clusterin Gene Polymorphisms with Late-Onset Alzheimer's Disease. Dement Geriatr Cogn Disorder 32: 198-201 (2011)
  • Weber A, Taube S, Starke S, Bergmann E, Christiansen NM, Christiansen H. Detection of tumor cells by amplicon-fusion-site polymerase chain reaction (AFS-PCR). J Clin Invest., 2011;121(2):545-553.
Inhaltspezifische Aktionen

2010

Humangenetik, Publikationen 2010

 

  • Müller U: A molecular link between dystonia 1 and dystonia 6? Ann Neurol 68:418-420 (2010)
  • Müller U: Hereditäre Paragangliome: Pathogenese und "parent-of-origin"-Effekte. Medizinische Genetik. 22: 434-438 (2010) DOI:10.1007/s11825-010-0240-1
  • Nolte D, Sobanski E, Wißen A, Regula JU, Lichy C, Müller U: Spinocerebellar ataxia type 17 (SCA17) associated with an expansion of 42 glutamine residues in TBP. J Neurol Neurosurg Psychiatry 81:1396-1399 (2010)
  • Zirn B, Korenke C, Wagner M, Rudnik-Schöneborn S, Müller U: Concurrence of Dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. Movement Disord, 26: 361-362 (2010) DOI: 10.1002/mds.23437
  • Herzfeld T, Korinthenberg R, Müller U: D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia. Movement Disorders 26:182-183 (2010), DOI: 10.1002/mds.23238
  • Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Müller U, Ludolph AC :The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J Neurol 257:1298-302 (2010), DOI: 10.1007/s00415-010-5512-9
  • Söhn AS, Glöckle N, Duarte Doetzer A, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O,  Bauer P, Müller U, Grundmann K: Prevalence of THAP1 mutations in a large cohort of German patients with primary dystonia. Movement Disord 5:1982-1986 (2010)
  • Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel A, Wijsman EM, Bird TD: The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol 67:631-633 (2010)
  • Stamelou M, de Silva R, Arias-Carrión O, Boura E, Höllerhage M, Oertel WH, Müller U, Höglinger GU: Rational therapeutic approaches to progressive supranuclear palsy. Brain 133:1578-1579 (2010)

 

Inhaltspezifische Aktionen

2009

Humangenetik, Publikationen 2009

 

    • Müller U, Zirn B, Steinberger D (2009) Dopa-responsive dystonia. Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin Heidelberg. DOI 10.1007/978-3-540-29676-8_510

       

    • Müller U (2009) The monogenic primary dystonias.Brain 132: 2005-25. DOI:10.1093/brain/awp172

 

 

 

 

 

 

 

 

Inhaltspezifische Aktionen

1992 - 2008

Humangenetik, Publikationen 1992 - 2008 


  • Müller U (2008) MSX2 and ALX4: craniosynostosis and defects in skull ossification.In: "Inborn errors of development - The Molecular Basis of Clinical Disorders of Morphogenesis". CJ Epstein, RP Erickson, AJ Wynshaw-Boris, eds, Oxford University Press, Second edition, 730-734
  • Müller U (2008) Zur Genetik neurologischer und psychiatrischer Krankheiten. (Editorial) DNP 6: 1-2
  • Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting J-W, Brouwer OF, Müller U (2008) Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-ascending spastic paralysis: the first cases from northwestern Europe. Eur J Hum Genet 16: 1407-1411
  • Herzfeld T, Wolf N, Winter P, Hackstein H, Vater D, Müller U (2008) Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). Neurogenetics doi:10.1007/s10048-008-0148-y
  • Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke L, Müller U (2008) Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosurg Psychiatry 79: 183-186
  • Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U (2008) Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 79: 1327-1330
  • Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurol 71: 177-183
  • Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A (2008) Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet A 146: 1049-1054
  • Müller U, Herzfeld T, Nolte D (2007) The TAF1/DYT3 multiple transcript system in X-linked Dystonia-Parkinsonism. Am J Hum Genet 81: 415-417
  • Herzfeld T, Nolte D, Müller U (2007) Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. Mamm Genome 18: 787-795
  • Zirn B, Steinberger D, Müller U (2007) L-Dopa kompensiert erblichen BH4-Mangel. DNP 4: 54-56
  • Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Müller U (2007) Utility of MLPA in deletion analysis of GCH1 in Dopa-responsive dystonia. Neurogenetics 8: 51-55
  • Nolte D, Landendinger M, Schmitt E, Müller U (2007) Spinocerebellar Ataxia 14: Novel mutation in exon 2 of PRKCG in a German family.  Movement Disord 22: 265-267
  • Nolte D, Klebe S, Baron R, Deuschl G, Müller U (2007)  Codon 101 of PRKCG, a preferential mutation site in SCA14 (p NA). Movement Disord 22: 1831-1832
  • Evidente VG, Lyons MK, Wheeler M, Hillman R, Helepolelei L, Beynen F, Nolte D, Müller U, Starr PA (2007) First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation. Movement Disord 22: 1790-1793
  • Tackenberg B, Metz A, Unger M, Schimke N, Passow S, Hoeffken H, Hoffmann GF, Müller U, Nolte D, Oertel WH, Eggert K, Möller JC (2007) Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). Movement Disord 22: 900-902
  • Nestler U, Schmidinger A, Schulz C, Huegens-Penzel M, Gamerdinger UA, Koehler A, Kuchelmeister KW (2007) Glioblastoma simultaneously present with meningioma - report of three cases. Zentralbl Neurochir 68: 145-150
  • Müller U (2006) Dystonia (Correspondence). N Engl J Med 355: 1935
  • Nolte D, Müller U (2006) Punktmutationen und Deletionen bei spinozerebellären Ataxien. Neuroforum 4: 260-265
  • Köhler A, Müller U (2006) Geistige Retardierung: Chromosomenanalyse – Indikationen und Verfahren. DNP 6: 45-48
  • Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, Mock AF, Evidente VGH, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 38: 447-451
  • Depboylu C, Lohmüller F, Du Y, Riemenschneider M, Kurz A, Gasser T, Müller U, Dodel RC (2006) alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer’s disease. Neurosci Lett 400: 187-190
  • Riemenschneider M, Konta L, Friedrich P, Schwarz S, Taddei K, Neff F, Padovani A, Kölsch H, Laws SM, Klopp N, Bickeböller H, Wagenpfeil S, Mueller JC, Rosenberger A, Diehl-Schmid J, Archetti S, Lautenschlager N, Borroni B, Müller U, Illig T, Heun R, Egensperger R, Schlegel J, Förstl H, Martins RN, the German Sib-Pair Study Group, Kurz A (2006) A functional polymorphism within plasminogen activator urokinose (PLAU) is associated with Alzheimer’s disease. Hum Mol Genet 15: 2446-2456
  • Müller U, Troidl C, Niemann S (2005) SDHC mutations in hereditary paraganglioma/pheochromocytoma. Familial Cancer 4: 9-12
  • Prinzen C, Müller U, Endres K, Fahrenholz F, Postina R (2005) Genomic structure and functional characterization of the human ADAM10 promoter. FASEB J  9: 1522-1524 (FASEB J  10.1096/fj.04-1619fje)
  • Kress JA, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld A-D (2005). Ann Neurol 58: 800-803
  • Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller U, Neubauer BA (2005) SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatr 36: 210-213
  • Laws SM, Perneczky R, Wagenpfeil S, Müller U, Forstl H, Martins RN, Kurz A, Riemenschneider M. (2005) TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels. Hum Mutat 26: 1-7  
  • Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SM (2005) An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? Neurol 65: 1111-1113
  • Perneczky R, Mösch D, Neumann M, Kretzschmar H, Müller U, Busch R, Förstl H, Kurz A (2005) The Alzheimer variant of Lewy body disease: a pathologically confirmed case-control study. Dement Geriatr Cogn Disord 20: 89-94
  • Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J (2005)  PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 76: 421-426. Erratum in: Am J Hum Genet 76:715. [Niemann, Stephan added]
  • Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck-Lehmann U, Mohnike K, Thiele H, Zierler H, Brewer C, Wieacker P (2005) Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res 63: 263-269
  • Kaindl AM, Steinberger D, Heubner G, Müller U, Blau N, Neubert K, Kunath B, von der Hagen M (2005) Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1. J Pediatr Neurol 3: 83-87
  • Müller U (2004) MSX2 and ALX4: craniosynostosis and defects in skull ossification. In: Inborn errors of development, CJ Epstein, RP Erickson, AJ Wynshaw-Boris, eds, Oxford University Press, 568-571
  • Müller U, Riemenschneider, Kurz A (2004) Alzheimer Krankheit: Molekulare Diagnostik und genetische Beratung. Medgen 16: 316-320
  • Müller U, Gasser T, Graeber MB (2004) 10 Jahre Deutsche Gesellschaft für Neurogenetik. Medgen 16: 379-380
  • Evidente VGH, Nolte D, Niemann S, Advincula J, Mayo MC, Natividad FF, Müller U (2004) Phenotypic and molecular analysis of X-linked dystonia parkinsonism ("Lubag") in women. Arch Neurol  61: 1956-1959
  • Niemann S, Joos H, Meyer T. Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U (2004) Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect. J Neurol Neurosurg Psychiatry 75: 1186-1188 
  • Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, Müller U (2004) Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 5: 187-190 
  • Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U (2004) Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 74: 558-563 
  • Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U (2004) Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plastic Reconstr Surg 113: 1899-1909 
  • Riemenschneider M, Klopp N, Xiang W, Wagenpfeil S, Vollmert C, Müller U, Förstl H, Illig T, Kretzschmar H, Kurz A (2004) Prion protein codon 129 polymorphism and risk of Alzheimer disease. Neurol  63: 364-366
  • Müller U (2003) Primary dystonias. In: Genetics of movement disorders, S. Pulst , ed, Elsevier Sciences ( USA ), 395-405
  • Müller U (2003) Craniofacial abnormalities: molecular basis. Encyclopedia of the Human Genome, Nature Publishing , 961-966
  • Graeber MB , Müller U (2003) Dementia with Lewy bodies: disease concept and genetics. Neurogenetics 4: 157-162
  • Nolte D, Niemann S, Müller U (2003) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA 100: 10347-10352
  • Niemann S, Müller U, Engelhardt D, Lohse P (2003) Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor sitze mutation in SDHC. Hum Genet 113: 92-94
  • Bandmann O, Goertz M, Zschocke J, Deuschl G, Jost W, Hefter H, Müller U, Zöfel P, Hoffmann G, Oertel W (2003) The phenylalanine loading test in the differential diagnosis of dystonia. Neurology  60: 700-702
  • Schwarz S, Eisele T, Diehl J, Müller U, Förstl H, Kurz A, Riemenschneider M (2003) Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer's disease. Neuroscience Letters 343: 167-170
  • Depboylu C, Du Y, Müller U, Kurz A, Zimmer R, Riemenschneider M, Gasser T, Oertel WH, Klockgether T, Dodel RC (2003) Lack of association of interleukin-10 promoter region polymorphisms with Alzheimer's disease. Neuroscience Letters 342: 132-134
  • Müller U (2001) Fortschritte der Neurogenetik - Viele Leiden bald behandelbar. DNP 4: 32-34
  • Müller U (2001) Beitritt der DGNG (Deutsche Gesellschaft für Neurogenetik) zum vdbiol - ein Portrait. Biologen heute 1/01: 19
  • Nolte D, Ramser J, Niemann S, Lehrach H, Sudbrak R, Müller U (2001) ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1. Neurogenetics 3: 207-213
  • Niemann S, Becker-Follmann J, Nürnberg G, Rüschendorf F, Sieweke N, Hügens-Penzel M, Traupe H, Wienker TF, Reis A, Müller U (2001) Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant nonchromaffin paraganglioma. Am J Med Genet 98: 32-36
  • Altland K (2001) Molecular diagnosis of amyloidosis. In: "Surgical Pathology", S. Hauptmann, M. Dietel, M. Sobrinho-Sirnoes (eds.) ABW-Wissenschaftsverlag Leiben, 475-477
  • Müller U (2000) The oocyte and the primordial female. Cytogenet Cell Genet 91: 37-38
  • Müller U (2000) Book review: Genetic influences on neural and behavioral functions. DW Pfaff, WH Berrettini, TH Joh, SC Maxon, CRC Press, Boca Raton, London, New York, Washington D.C. (2000). Hum Genet 106: 144-145
  • Niemann S, Müller U (2000) Mutations in the large subunit gene of cytochrome b (SDHC) of mitochondrial complex II cause autosomal dominant paraganglioma, type 3. Nature Genet 26: 268-270
  • Steinberger D, Korinthenberg R, Topka H, Berghäuser M, Wedde R, Müller U (2000) Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-Dopa in mutation-positive and -negative cases. Neurology 55: 1735-1737
  • Robson CD, Mulliken JB, Robertson RL, Proctor MR, Steinberger D, Barnes PD, McFarren A, Müller U, Zurakowski D (2000) Prominent basal emissary foramina in syndromic craniosynostosis: Correlation with phenotypic and molecular diagnosis. Am J Neuroradiol 21: 1707-1717
  • Du Y, Dodel RC, Eastwood BJ, Bales KR, Gao F, Lohmüller F, Müller U, Kurz A, Zimmer R, Evans RM, Hake A, Gasser T, Oertel WH, Griffin SWT, Paul SM, Farlow MR (2000) Association of an interleukin 1alpha polymorphism with Alzheimer's disease. Neurology 55: 480-483
  • Boultwood J, Fidler C, Strickson AJ, Watkins F, Kostrzewa M, Jaju RJ, Müller U, Wainscoat JS (2000) Transcription mapping of the 5q- syndrome critical region: Cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Genomics 66: 26-34
  • Altland K, Winter P (2000) Potential treatment of transthyretin-type amyloidoses by sulfite. Pathol Res Pract 196: 354
  • Hund E, Golling M, Singer R, Wöhrle J, Linke RP, Altland K, Willig F, Klar E (2000) Orthotopic liver transplantation in familial amyloidosis: clinical and neurophysiological effects. Pathol Res Pract 196: 354
  • Singer R, Altland K, Hund EF, Klar E, Linke RP, Schnabel PA, Strasser RH (2000) Familial amyloidosis TTR-arginin 50. Pathol Res Pract 196: 354
  • Steinberger D, Topka H, Fischer D, Müller U (1999) GCHI mutation in a patient with adult-onset oromandibular dystonia. Neurology 52: 877-879
  • Steinberger D, Müller U, Jünger TH, Howald HP, Chistophis P (1999) Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. J Med Genet 36: 499-500
  • Jaju RJ, Haas OA, Neat M, Harbott J, Saha V, Bouldwood J, Brown JM, Pirc-Daneowinata H, Krings BW, Müller U, Morris SW, Wainscoat JS (1999) A new recurrent translocation, t(5;11)(q35;p15.5) with del(5q) in childhood AML. Blood 94: 773-780
  • Nemeth AH, Nolte D, Dunne E, Niemann S, Kostrzewa M, Peters U, Fraser E, Bochukova E, Butler R, Brown J, Cox RD, Levy ER, Ropers HH, Monaco AP, Müller U (1999) Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). Genomics 60: 320-329
  • Müller U, Rauskolb R (1999) Pränatale Diagnostik. Aufgaben und Methoden. In: "Klinik der Frauenheilkunde und Geburtshilfe", 4. Auflage, Band 4:Schwangerschaft I,  Künzel W (Hrsgb.), Urban & Schwarzenberg, München, Wien, Baltimore, 244-250
  • Müller U (1999) Dystonia-parkinsonism syndrome, X-linked (XDP). In: Elsevier's Encyclopedia of Neuroscience, G Adelman, BH Smith, eds, Elsevier Science, 593-594
  • Mulliken JB, Steinberger D, Kunze S, Müller U (1999) Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 104: 1603-1615
  • Müller U (1999) Editorial: Neurogenetische Erkrankungen. Psycho 4: 215
  • Lautenschlager N, Kurz A, Müller U (1999) Erbliche Usachen und Risikofaktoren der Alzheimer-Krankheit. Nervenarzt 70: 195-205
  • Niemann S, Steinberger D, Müller U (1999) PGL3, a third, not maternally imprinted locus in autosomal-dominant paraganglioma. Neurogenetics 2: 167-170
  • Bailey ME, Matthews DA, Riley BP, Albrecht BE, Kostrzewa M, Hicks AA, Harris R, Müller U, Darlison MG, Johnson KJ (1999) Genomic mapping and evolution of human GABA(A) receptor subunit gene clusters. Mamm Genome 10: 839-843
  • Grasbon-Frodl EM, Kösel S, Riess O, Müller U, Mehraein P, Graeber MB (1999) Analysis of mitochondrial targeting sequence and coding region polymorphisms of the manganese superoxide dismutase gene in German parkinson disease patients. Biochem Biophys Res Comm 355: 749-752
  • Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschutter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45: 200-206
  • Nitschke M, Steinberger D, Heberlein I, Otto V, Müller U, Vieregge P (1998) Dopa-responsive dystonia with Turner's syndrome - Clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. J Neurol Neurosurg Psych 64: 806-808
  • Kostrzewa M, Müller U (1998) Genomic structure and complete sequence of the human FGFR4 gene. Mammalian Genome 9: 131-135
  • Steinberger D, Vriend G, Mulliken JB, Müller U (1998) The mutations in FGFR2 associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet 102: 145-150
  • Müller U, Steinberger D, Nemeth AH (1998) Clinical and molecular genetics of primary dystonias. Neurogenetics 1: 165-177
  • Kurz A, Riemenschneider M, Buch K, Willoch F, Bartenstein P, Müller U, Guder W (1998) Tau protein in cerebrospinal fluid is significantly increased a the earliest clinical stage of Alzheimer disease. Alzheimer Disease and Associated Disorders 12: 372-377
  • Graeber MB, Müller U (1998) Recent developments in the molecular genetics of mitochondrial disorders. J Neurol Sci 153: 251-263
  • Kostrezwa M, Krings BW, Dixon MJ, Eppelt K, Köhler A, Grady DL, Steinberger D, Fairweather ND, Moyzis RK, Monaco AP, Müller U (1998) Integrated physical and transcript map of 5q31.3-qter. Eur J Hum Genet 6: 266-274
  • Steinmüller R, Steinberger D, Müller U (1998) MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: Assignment of disease locus to Xp11.3-p22.13. Eur J Hum Genet 6: 201-206
  • Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Müller U (1998) High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with Dopa-responsive dystonia. Ann Neurol 43: 634-639
  • Jaju RJ, Boultwood J, Oliver FJ, Kostrzewa M, Fidler C, Parker N, McPherson JD, Morris SW, Müller U, Wainscoat JS, Kearney L (1998) Molecular cytogenetic delineation of the critical deleted region in 5q-syndrome. Genes, Chromosomes and Cancer 22: 251-256
  • Bertram L, Busch R, Spiegl M, Lautenschlager NT, Müller U, Kurz A (1998) Paternal age is a risk factor for Alzheimer disease in the absence of a major gene. Neurogenetics 1: 277-280
  • Lau E-L, Kostrzewa M, Müller U (1998) Transcript map of the chromosome 2 linked autosomal dominant spastic paraplegia (SPG4) critical region and identification of a highly informative STRP. Neurogenetics 2: 75-76
  • Müller U, Bödeker RH, Kurz A (1998) Association between ACT polymorphism and Alzheimer's disease (Correspondence). Neurology 50:: 574-576
  • Sandbrink R, Müller U (1998) Molekulargenetik der Alzheimer-Krankheit. Medgen 10: 378-382
  • Müller U (1998) Construction of a physical, genetic and transcript map in region q32-qter of human chromosome 5 and relation to a craniosynostosis locus. In: "Human Genome Analysis" Supported under BIOMED 1 - Biomedical and Health Research, M. Hallen (Hrsgb.), IOS Press Ohmsha, Amsterdam, Berlin, Oxford, Tokyo, Washington, 23: 72-86
  • Nitschke M, Steinberger D, Heberlein I, Otto V, Müller U, Vieregge P (1998) Dopa responsive dystonia with Turner's syndrome: clinical, genetic and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. J Neurol Neurosurg Psychiat 64: 806-808
  • Kostrzewa M, Klockgether T, Damian MS, Müller U (1997) Locus heterogeneity in Friedreich ataxia. Neurogenetics 1: 43-47
  • Graeber MB, Kösel S, Egensperger R, Banati RB, Müller U, Bise K, Hoff P, Möller HJ, Fujisawa K, Mehraein P (1997) Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis. Neurogenetics 1: 73-80
  • Steinberger D, Collmann H, Schmalenberger B, Müller U (1997) A novel mutation (A886->G) in exon 5 of FGFR2 in patients with Crouzon phenotype and plagiocephaly. J Med Genet 34: 420-422
  • Boultwood J, Fidler C, Soularue P, Strickson AJ, Kostrzewa M, Jajo RJ, Cotter FE, Fairweather N, Monaco AP, Müller U, Lovett M, Jabs EW, Auffray C, Wainscoat JS (1997) Novel genes mapping to the critical region of the 5q-syndrome. Genomics 45: 88-96
  • Peters U, Haberhausen G, Kostrzewa M, Nolte D, Müller U (1997) AFX1 and p54nrb: Fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. Hum Genet 100: 569-572
  • Müller U, Steinberger D, Kunze S (1997) Molecular genetics of craniosynostotic syndromes. Graefe's Arch Clin Exp Ophthalmol 235: 545-550
  • Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U (1997) Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet 100: 287-289
  • Weber Y, Steinberger D, Deuschl G, Benecke R, Müller U (1997) Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics 1: 125-127
  • Müller U (1997) Molekulare Analyse der neurogenetischen Erkrankungen M. Huntington, amyotrophe Lateralsklerose und M. Alzheimer. Nervenheilkunde 16: 138-143
  • Kurz A, Müller U (1997) Apolipoprotein E und Alzheimer Krankheit. In: "Alzheimer-Krankheit", Rösler, Retz, Thone (Hrsgb.), Deuscher Studien-Verlag, Weinheim, 144-151
  • Kostrzewa M, Grady DL, Moyziz RK, Flöter L, Müller U (1996) Integration of four genes, a pseudogene, thirty STSs, and a highly polymorphic STRP into th 7-10 Mbp YAC contig of 5q34-q35. Hum Genet 97: 399-403
  • Müller U, Graeber, MB (1996) Neurogenetic diseases: molecular diagnosis and therapeutic approaches. J Mol Med 74: 71-84
  • Müller U (1996) H-Y antigens. Hum Genet 97: 701-704
  • Kostrzewa M, Damian MS, Müller U (1996) Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 98: 48-50
  • Kurz A, Altland K, Lautenschlager N, Haupt M, Zimmer R, Busch R, Gerundt I, Lauter H, Müller U (1996) Apolipoprotein E type 4 allele and Alzheimer's disease: effect on age at onset and relative risk in different age groups. J Neurol 243: 452-456
  • Steinberger D, Mulliken JB, Müller U (1996) Crouzon syndrome: Previously unrecognized deletion, duplication and point mutation within FGFR2 gene. Hum Mut 8: 386-390
  • Kurz A, Egensperger R, Haupt M, Lautenschlager N, Romero B, Graeber MB, Müller U (1996) Apolipoprotein E allele 4, cognitive decline, and deterioration of everyday perfomance in Alzheimer's disease. Neurology 47: 440-443
  • Kostrzewa M, Köhler A, Eppelt K, Hellam L, Fairweather ND, Levy ER, Monaco AP, Müller U (1996) Assignment of genes encoding GABAA receptor subunits (1, (6, (2, and (2 to a YAC contig of 5q33. Eur J Hum Genet 4: 199-204
  • Steinberger D, Reinhartz T, Unsöld R, Müller U (1996) FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am J Med Genet 66: 81-86
  • Müller U, Bödeker RH, Gerundt I, Kurz A (1996) Lack of association between (1-antichymotrypsin polymorphism, Alzheimer's disease and allele 4 of apolipoprotein E. Neurology 47: 1575-1577
  • Müller U, Kurz A, Lauter H, Altland K (1996) Aktuelle Gesichtspunkte zur Genetik neurodegenerativer dementieller Erkrankungen. In: "Demenz - Die Herausforderung", Wächtler C, Hirsch RD, Kortus R und Stoppe G (Hrsgb.), Verlag Egbert Ramin, Singen, 15-24
  • Steinberger D, Müller U (1996) Molekulargenetik und Klinik der Dopa responsiven Dystonie. Dtsch Ärztebl 24: 1271-1273
  • Müller U (1996) Molekulargenetische Untersuchungen bei primären Torsionsdystonien. In: "Aktuelle Perspektiven der Biologischen Psychiatrie", Möller, Müller-Spahn, Kurtz (Hrsgb.), Springer-Verlag, 534-540
  • Müller U (1996) Genetik der Alzheimer-Krankheit. Mitteilungen der Alzheimer-Gesellschaft München : 4-9
  • Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Müller U, Druck T, Simoneaux DK, Chelly J, Belmont JW, Beckmann MP, Lyman SD (1995) Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12. Genomics 25: 335-335
  • Haberhausen G, Müller U (1995) A rapid and efficient method for the cloning of cosmid end-pieces. Nucl Acids Res 23: 1441-1442
  • Köhler A, Hain J, Müller U (1995) Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome (MDS). Clin Genet 47: 161-164
  • Steinberger D, Mulliken JB, Müller U (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum Genet 96: 113-115
  • Haberhausen G, Schmitt I, Köhler A, Peters U, Rider S, Chelly J, Terwilliger ID, Monaco AP, Müller U (1995) Assignment of the dystonia-parkinsonism locus, DYT3, to a small region within a 1.8 Mb YAC contig of Xq13.1. Am J Hum Genet 57: 644-650
  • Haberhausen G, Damian MS, Leweke F, Müller U (1995) Spinocerebellar ataxia, type 3 (SCA3) is genetically indentical to Machado-Joseph disease (MJD). J Neurol Sci 132: 71-75
  • Farrer LA, Cupples LA, van Duijn CM, Kurz A, Zimmer R, Müller U, Green RC, Clarke V, Shoffner J, Wallace DC, Chui H, Flanagan SD, Duara R, St. George-Hyslop P, Auerbach SA, Volicer L, Wells JM, van Broeckhoven C, Growdon JH, Haines JL (1995) Apolipoprotein E genotype in patients with Alzheimer's disease: Implications for the risk of dementia among relatives. Ann Neurol 38: 797-808
  • Müller U (1995) Vom Gral der Genetiker zur praktischen Medizin. Münch Med Wschr 137: 25-26
  • Kurz A, Egensperger R, Lautenschlager N, Haupt M, Altland K, Graeber MB, Müller U (1995) Das Apolipoprotein-E-Gen und der Phänotyp der Alzheimer-Krankheit. Z Gerontol Geriat 28: 195-199
  • Graeber MB, Müller U (1995) Second Workshop Neurogenetics/German Society of Neurogenetics. Neuropathology and Applied Neurobiology 22: 168-175
  • Müller U (1995) Aspekte zur Genetik und Diagnostik des M. Alzheimer. Med-Report 19(7): 6
  • Bindewald B, Ulmer H, Müller U (1994) Fallot complex, severe mental and growth retardation: A new autosomal recessive syndrome. Am J Med Genet 50: 173-176
  • Müller U., Graeber MB, Haberhausen G, Köhler A (1994) Molecular basis and diagnosis of neurogenetic disorders. J Neurol Sci 124: 119-140
  • Köhler A, Hain J, Müller U (1994) Familial half-cryptic translocation t(9;17). J Med Genet 31: 712-714
  • Müller U, Haberhausen G, Wagner T, Fairweather N, Chelly J, Monaco AP (1994) DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). Genomics 23: 114-117
  • Kostrzewa M, Burck-Lehmann U, Müller U (1994) Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum Mol Genet 3: 2261-2262
  • Kurz A, Lautenschlager N, Haupt M, Zimmer R, Altland K, von Thülen B, Lauter H, Müller U (1994) Das Apolipoprotein-E-4-Allel ist ein Risikofaktor für die Alzheimer-Krankheit mit frühem und spätem Beginn. Nervenarzt 65: 774-779
  • Müller U (1994) The human Y chromosome. In: "Molecular Genetics of Sex Determination", S S Wachtel, ed., Academic Press,205-224
  • Graeber MB, Müller U (1994) Neurogenetische Untersuchungen am X chromosomalen Dystonie-Parkinson-Syndrom (XDP). ZNS-Journal 7: 13-17
  • Müller U (1994) Positional cloning of the testis determining gene, TDF. In: "Molecular Basis of Endocrine Diseases", A Isidori, M I New, C PaviaSesma, eds., Ares Serono Symposia, Frontiers in Endocrinology 7: 75-86
  • Müller U, Graeber MB (1994) Erster Workshop Neurogenetik in Deutschland. ZNS-Journal 9: 2-3
  • Graeber MB, Müller U (1994) Neurogenetik von Bewegungsstörungen. ZNS-Journal 9: 8-9
  • Müller U, Graeber MB (1994) Neurogenetik in Deutschland. Dtsch Ärztebl 91: 2953-2954
  • Warman ML, Mulliken JB, Hayward P, Müller U. (1993) Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 46: 444-449
  • Müller U, Wachtel SS, Jaswaney VL, Goldberg EH (1993) H-Y (SDM) antibody specifically binds Müllerian inhibiting substance. Hum Genet 91: 515-518
  • Müller U, Warman ML, Mulliken JB, Weber JL (1993) Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet 2: 119-122
  • Müller U, Weber JL, Berry P, Kupke KG (1993) Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. J Med Genet 30: 597-600
  • Markiewicz S, DiSanto JP, Chelly J, Fairweather N, LeMarec B, Griscelli C, Graeber MB, Müller U, Fischer A, Monaco AP, de Saint Basile G (1993) Fine mapping of the human SCIDX1 locus at Xq12-13.1. Hum Mol Genet 2: 651-654
  • Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth I, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead M, Maxson R (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75: 443-450
  • Graeber MB, Müller U, Monaco AP, Weber JL (1993) Four dinucleotide repeat polymorphisms at the D7S804 locus. Hum Mol Genet 2: 2195
  • Müller U (1993) X-linked Dystonia-Parkinsonism syndrome (XDP). In: Neuroscience Year: Supplement to the Encyclopedia of Neuroscience, B. Smith and G Adelmann, eds., Birkhäuser Boston, 43-44
  • Müller U, Bauer R. (1993) Strahlenrisiko bei Schwangeren. Münch Med Wschr 26/27: 356-358
  • Gessler M, Müller U (1993) Molekulargenetische Untersuchungsmethoden in der Humangenetik. MTA 8: 1049-1055
  • Müller U (1993) Der Einsatz von DNA Sonden und Oligonukleotiden in der pränatalen Diagnostik. In: "Gynäkologie und Geburtshilfe 1992", Krebs D. und Berg D. (Hrsgb.), Springer-Verlag, Berlin Heidelberg New York London Paris Tokyo Hong Kong Barcelona Budapest, 1610-1618
  • Cheng SD, Gasparini R, Müller U (1992) Molecular analysis of aberrations of Xp and Yq. Hum Genet 88: 379-382
  • Graeber MB, Kupke KG, Müller U (1992) Delineation of the dystonia-parkinsonism syndrome (XDP) locus in Xq13. Proc Natl Acad Sci (USA) 89: 8245-8248
  • Graeber MB, Monaco AP, Chelly J, Müller U (1992) Isolation of DNTR repeats from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56. Hum Genet 90: 270-274
  • Graeber MB, Müller U (1992) The X-linked Dystonia-Parkinsonism Syndrome (XDP): Clinical and molecular genetic analysis. Brain Pathol 2: 287-295
  • Guttenbach M, Müller U, Schmid M (1992) A human moderately repeated Y-specific DNA sequence is evolutionarily conserved in the Y chromosome of the great apes. Genomics 13: 363-367
  • Kupke KG, Graeber MB, Müller U (1992) Dystonia-Parkinsonism Syndrome (XDP) locus: Flanking markers in Xq12-q21.1. Am J Hum Genet 50: 808-815
  • Müller U (1992) The Y chromosome and its role in primary sex differentiation. J Anim Sci 70 (Suppl. 2): 1-7
  • Müller U, Kirkels VGHJ, Scheres JMJ (1992) Absence of Turner stigmata in a 46,XYp- female. Hum Genet 90: 239-242
  • Zhang JS, Yang-Feng TL, Müller U, Mohandas TK, de Jong PJ, Lau YFC (1992) Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet 1: 717-726
  • Müller U, Graeber, M (1992) Genetics of neurodegenerative disorders. Brain Pathol 2: 285-36
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