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- [21] Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsOrphanet Journal of Rare Diseases, 9Matthis Synofzik论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieRebecca Schüle论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieMartin Schulze论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieJanina Gburek-Augustat论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieRoland Schweizer论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieAnja Schirmacher论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieIngeborg Krägeloh-Mann论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieMichael Gonzalez论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertiePeter Young论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieStephan Züchner论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertieLudger Schöls论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, HertiePeter Bauer论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Neurodegenerative Diseases, Hertie
- [22] A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar AtaxiaMOVEMENT DISORDERS, 2022, 37 (08) : 1774 - 1776Schoggl, Johanna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria论文数: 引用数: h-index:机构:Boltshauser, Eugen论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Dept Pediat Neurol Emeritus, Zurich, Switzerland Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, AustriaFreilinger, Michael论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, AustriaSchmidt, Wolfgang M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Neuromuscular Res Dept, Ctr Anat & Cell Biol, Waehringer Str 13, A-1090 Vienna, Austria Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria
- [23] HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyJOURNAL OF NEUROMUSCULAR DISEASES, 2024, 11 (05) : 1131 - 1137论文数: 引用数: h-index:机构:Haeusler, Martin论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Dept Paediat, Div Neuropediat & Social Pediat, Aachen, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, Germany论文数: 引用数: h-index:机构:Topf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyPreusse, Corinna论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Neuropathol, Berlin, Germany Charite Univ Med Berlin, Berlin Inst Hlth, Berlin, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyStucka, Rolf论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Munich, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyNolte, Kay论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyStrom, Tim论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyBerutti, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, Computat Hlth Ctr, Neuherberg, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyJiang, Xuehui论文数: 0 引用数: 0 h-index: 0机构: Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyKoll, Randi论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Dept Neuropathol, Berlin, Germany Charite Univ Med Berlin, Berlin Inst Hlth, Berlin, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario Res Inst, Ottawa Hosp, Dept Med,Div Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Ctr Nacl Anal Genom CNAG, Barcelona, Spain Univ Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanySchacht, Sabine Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH, Dept Diagnost & Intervent Radiol, Aachen, Germany Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyZahedi, Rene P.论文数: 0 引用数: 0 h-index: 0机构: Leibniz Inst Analyt Wissensch ISAS eV, Dortmund, Germany Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada Univ Manitoba, Dept Internal Med, Winnipeg, MB, Canada Univ Manitoba, Manitoba Ctr Prote & Syst Biol, Winnipeg, MB, Canada Canc Care Manitoba Res Inst, Winnipeg, MB, Canada Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, GermanySenderekh, Jan论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Munich, Germany Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada Univ Duisburg Essen, Ctr Translat Neuro & Behav Sci, Dept Neuropediat, Essen, Germany
- [24] Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsORPHANET JOURNAL OF RARE DISEASES, 2014, 9Synofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany Univ Tubingen, German Res Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanySchuele, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany Univ Tubingen, German Res Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanySchulze, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyGburek-Augustat, Janina论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanySchweizer, Roland论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Gen Pedatr Pediat Endocrinol & Diabetol, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanySchirmacher, Anja论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Munster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyKraegeloh-Mann, Ingeborg论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyGonzalez, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyYoung, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Munster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyZuechner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Human Genet, Dr John T Macdonald Fdn, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany Univ Tubingen, German Res Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany
- [25] Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal TremorNEUROLOGIST, 2017, 22 (06) : 247 - 248Gass, Jennifer M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USACheema, Anvir论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USAJackson, Jessica论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USABlackburn, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USAVan Gerpen, Jay论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USAAtwal, Paldeep S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, 4500 San Pablo Rd, Jacksonville, FL 32224 USA
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