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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

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Title: Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Authors: Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Incebacak Eltemur RD; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Huridou C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Fath F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany., Nümann A; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Baumann A; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Regensburger M; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany., Rönnefarth M; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Wilke V; Department of Neurology and Center for rare diseases, University Hospital Tübingen, Tübingen, Germany., van Os N; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands., Vielhaber S; Department of Neurology, University Hospital Magdeburg, Magdeburg, Germany., Rattay TW; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.; Center for Rare Diseases, University Hospital Kiel, Kiel, Germany.; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Kohl Z; Department of Neurology, University Hospital Regensburg, Regensburg, Germany., Peralta S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pereira Sena P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kellner M; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Weissert N; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Traschütz A; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany., Zeltner L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Boelmans K; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; Department of Neurology, Klinikum Bremerhaven-Reinkenheide, Bremerhaven, Germany., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hinojosa Amaya AB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Raupach K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hengel H; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Harmuth F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bader I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Baumann S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bender F; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Bevot A; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Bischoff A; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Boschann F; Institute of Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Buchzik D; Sozialpädiatrisches Zentrum, Diakoneo Diak Klinikum Schwäbisch Hall, Schwäbisch Hall, Germany., Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Catarino CB; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Cordts I; Department of Neurology, Technical University Munich, Munich, Germany., Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Doebler-Neumann M; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Elbracht M; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Feindt T; Praxis Neurologie Magdeburg, Magdeburg, Germany., Fleszar Z; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gläser D; genetikum, Neu-Ulm, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Grosch S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Grundmann K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gutschalk A; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Haaga M; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Hayer S; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Hehr U; Zentrum für Humangenetik Regensburg, Regensburg, Germany., Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Henn W; Institute of Immunology and Genetics, Practice for human genetics in the Medicushaus Kaiserslautern, Kaiserslautern, Germany., Herr B; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany., Herzog R; Department of Neurology, University Hospital Lübeck, Lübeck, Germany., Horber V; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Deppe J; Department of Neurology, Technical University Munich, Munich, Germany., Kaiser N; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kehrer C; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kern J; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Keßler C; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Khuller K; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Kotzaeridou U; Department of Pediatrics, University of Heidelberg, Heidelberg, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Küpper H; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Kuster A; Department of Pediatrics, University of Nantes, Nantes, France., Laugwitz L; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Lesemann A; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Lichey N; Praxis für Humangenetik, Bremen, Germany., Linden T; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Macek B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Magg J; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany., Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Manka E; Department of Pediatrics, University Hospital Essen, Essen, Germany., Marquardt I; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Mehnert K; genetikum, Neu-Ulm, Germany., Mengel D; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Morlot S; Institute of Human Genetics, University of Hannover, Hannover, Germany., Oehl-Jaschkowitz B; MVZ Labor Saar GmbH, Praxis für Humangenetik, Homburg, Germany., Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, University of Tübingen, Tübingen, Germany., Radelfahr F; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Saft C; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany., Schlotter-Weigel B; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Spahlinger V; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Spranger S; Praxis für Humangenetik, Bremen, Germany., Steiner KM; Department of Neurology, University Hospital Essen, Essen, Germany., Stendel C; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Thieme A; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Tzschach A; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Wiethoff S; Department of Neurology, University Hospital Münster, Münster, Germany., Wilke C; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany., Züchner S; Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, USA., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Deschauer M; Department of Neurology, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Hemmer B; Department of Neurology, Technical University Munich, Munich, Germany., Jacobi H; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Klockgether T; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany., Klopstock T; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; German Centre for Neurodegenerative Diseases (DZNE) Site Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.; Computational Neurology Group, Medical Faculty, Ruhr University Bochum, Bochum, Germany., Korenke GC; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Kuhlenbäumer G; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Kurth I; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany., Nguyen HP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Wunderlich G; Department of Neurology and Center for Rare Diseases, University of Cologne, Faculty of Medicine and University Hospital, Köln, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany.; Department of Neurology, Knappschaftskrankenhaus Recklinghausen, Recklinghausen, Germany., Auer-Grumbach M; Department of Orthopedics and Trauma-Surgery, University Hospital Vienna, Vienna, Austria., Butryn M; Deutsches Zentrum für Neurodegenerative Erkrankungen Magdeburg, Magdeburg, Germany., Winkler J; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany.; Center for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Erlangen, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany., van de Warrenburg B; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands., Schüle R; Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Schöls L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany., Weber JJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. jonaszjeremiasz.weber@rub.de.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany. jonaszjeremiasz.weber@rub.de., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.
Corporate Authors: Solve-RD consortium
Source: Nature communications [Nat Commun] 2026 Feb 14; Vol. 17 (1), pp. 1698. Date of Electronic Publication: 2026 Feb 14.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Menden+B%22">Menden B</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Incebacak+Eltemur+RD%22">Incebacak Eltemur RD</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Demidov+G%22">Demidov G</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Sturm+M%22">Sturm M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Huridou+C%22">Huridou C</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Fath+F%22">Fath F</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Nümann+A%22">Nümann A</searchLink>; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Baumann+A%22">Baumann A</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Diets+IJ%22">Diets IJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Dufke+C%22">Dufke C</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Regensburger+M%22">Regensburger M</searchLink>; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Rönnefarth+M%22">Rönnefarth M</searchLink>; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Wilke+V%22">Wilke V</searchLink>; Department of Neurology and Center for rare diseases, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22van+Os+N%22">van Os N</searchLink>; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Vielhaber+S%22">Vielhaber S</searchLink>; Department of Neurology, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rattay+TW%22">Rattay TW</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.; Center for Rare Diseases, University Hospital Kiel, Kiel, Germany.; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kohl+Z%22">Kohl Z</searchLink>; Department of Neurology, University Hospital Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Peralta+S%22">Peralta S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Pereira+Sena+P%22">Pereira Sena P</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kellner+M%22">Kellner M</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Weissert+N%22">Weissert N</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Traschütz+A%22">Traschütz A</searchLink>; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Zeltner+L%22">Zeltner L</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Boelmans+K%22">Boelmans K</searchLink>; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; Department of Neurology, Klinikum Bremerhaven-Reinkenheide, Bremerhaven, Germany.<br /><searchLink fieldCode="AU" term="%22Deininger+N%22">Deininger N</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schütz+L%22">Schütz L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gross+C%22">Gross C</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hinojosa+Amaya+AB%22">Hinojosa Amaya AB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Raupach+K%22">Raupach K</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hengel+H%22">Hengel H</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Harmuth+F%22">Harmuth F</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Admard+J%22">Admard J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bader+I%22">Bader I</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Baumann+S%22">Baumann S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bender+F%22">Bender F</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bevot+A%22">Bevot A</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bischoff+A%22">Bischoff A</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Institute of Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Buchert+R%22">Buchert R</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Buchzik+D%22">Buchzik D</searchLink>; Sozialpädiatrisches Zentrum, Diakoneo Diak Klinikum Schwäbisch Hall, Schwäbisch Hall, Germany.<br /><searchLink fieldCode="AU" term="%22Casadei+N%22">Casadei N</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Catarino+CB%22">Catarino CB</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cordts+I%22">Cordts I</searchLink>; Department of Neurology, Technical University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cremer+K%22">Cremer K</searchLink>; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Doebler-Neumann+M%22">Doebler-Neumann M</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ehmke+N%22">Ehmke N</searchLink>; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Elbracht+M%22">Elbracht M</searchLink>; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Falb+RJ%22">Falb RJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Feindt+T%22">Feindt T</searchLink>; Praxis Neurologie Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Fleszar+Z%22">Fleszar Z</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gerstner+L%22">Gerstner L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gläser+D%22">Gläser D</searchLink>; genetikum, Neu-Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Grasshoff+U%22">Grasshoff U</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Grosch+S%22">Grosch S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Grundmann+K%22">Grundmann K</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gutschalk+A%22">Gutschalk A</searchLink>; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Haaga+M%22">Haaga M</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hayer+S%22">Hayer S</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hehr+U%22">Hehr U</searchLink>; Zentrum für Humangenetik Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hellenbroich+Y%22">Hellenbroich Y</searchLink>; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Henn+W%22">Henn W</searchLink>; Institute of Immunology and Genetics, Practice for human genetics in the Medicushaus Kaiserslautern, Kaiserslautern, Germany.<br /><searchLink fieldCode="AU" term="%22Herr+B%22">Herr B</searchLink>; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herzog+R%22">Herzog R</searchLink>; Department of Neurology, University Hospital Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Horber+V%22">Horber V</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Deppe+J%22">Deppe J</searchLink>; Department of Neurology, Technical University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kaiser+N%22">Kaiser N</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kehrer+C%22">Kehrer C</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kehrer+M%22">Kehrer M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kern+J%22">Kern J</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Keßler+C%22">Keßler C</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Khuller+K%22">Khuller K</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Klinkhammer+H%22">Klinkhammer H</searchLink>; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Kotzaeridou+U%22">Kotzaeridou U</searchLink>; Department of Pediatrics, University of Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+P%22">Krawitz P</searchLink>; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Kreiss+M%22">Kreiss M</searchLink>; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Küpper+H%22">Küpper H</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuster+A%22">Kuster A</searchLink>; Department of Pediatrics, University of Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Laugwitz+L%22">Laugwitz L</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lesemann+A%22">Lesemann A</searchLink>; Department of Neurology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Lichey+N%22">Lichey N</searchLink>; Praxis für Humangenetik, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Linden+T%22">Linden T</searchLink>; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Macek+B%22">Macek B</searchLink>; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Magg+J%22">Magg J</searchLink>; Department of Neuropediatrics, General Pediatrics, Endocrinology, Diabetology, Social Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mangold+E%22">Mangold E</searchLink>; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Manka+E%22">Manka E</searchLink>; Department of Pediatrics, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Marquardt+I%22">Marquardt I</searchLink>; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mehnert+K%22">Mehnert K</searchLink>; genetikum, Neu-Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Mengel+D%22">Mengel D</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Morlot+S%22">Morlot S</searchLink>; Institute of Human Genetics, University of Hannover, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Oehl-Jaschkowitz+B%22">Oehl-Jaschkowitz B</searchLink>; MVZ Labor Saar GmbH, Praxis für Humangenetik, Homburg, Germany.<br /><searchLink fieldCode="AU" term="%22Pauly+MG%22">Pauly MG</searchLink>; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Philipp+M%22">Philipp M</searchLink>; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Radelfahr+F%22">Radelfahr F</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Rautenberg+M%22">Rautenberg M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Riess+A%22">Riess A</searchLink>; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Saft+C%22">Saft C</searchLink>; Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Schlotter-Weigel+B%22">Schlotter-Weigel B</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schmidt+A%22">Schmidt A</searchLink>; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schwaibold+EMC%22">Schwaibold EMC</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Spahlinger+V%22">Spahlinger V</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; Praxis für Humangenetik, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Steiner+KM%22">Steiner KM</searchLink>; Department of Neurology, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Stendel+C%22">Stendel C</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Thieme+A%22">Thieme A</searchLink>; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Tzschach+A%22">Tzschach A</searchLink>; Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Velic+A%22">Velic A</searchLink>; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wiethoff+S%22">Wiethoff S</searchLink>; Department of Neurology, University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Wilke+C%22">Wilke C</searchLink>; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Züchner+S%22">Züchner S</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genetics, University of Miami Miller School of Medicine, Miami, USA.<br /><searchLink fieldCode="AU" term="%22Zittel+S%22">Zittel S</searchLink>; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Husain+RA%22">Husain RA</searchLink>; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Deschauer+M%22">Deschauer M</searchLink>; Department of Neurology, Technical University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Distelmaier+F%22">Distelmaier F</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Dufke+A%22">Dufke A</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Graessner+H%22">Graessner H</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hemmer+B%22">Hemmer B</searchLink>; Department of Neurology, Technical University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Jacobi+H%22">Jacobi H</searchLink>; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Klockgether+T%22">Klockgether T</searchLink>; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Klopstock+T%22">Klopstock T</searchLink>; Friedrich-Baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; German Centre for Neurodegenerative Diseases (DZNE) Site Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kobeleva+X%22">Kobeleva X</searchLink>; Department of Neurology, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.; Computational Neurology Group, Medical Faculty, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Korenke+GC%22">Korenke GC</searchLink>; Department of Pediatrics, University of Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuhlenbäumer+G%22">Kuhlenbäumer G</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Kurth+I%22">Kurth I</searchLink>; Center for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Nguyen+HP%22">Nguyen HP</searchLink>; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Wunderlich+G%22">Wunderlich G</searchLink>; Department of Neurology and Center for Rare Diseases, University of Cologne, Faculty of Medicine and University Hospital, Köln, Germany.<br /><searchLink fieldCode="AU" term="%22Zeuner+KE%22">Zeuner KE</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Klebe+S%22">Klebe S</searchLink>; Department of Neurology, University Hospital Essen, Essen, Germany.; Department of Neurology, Knappschaftskrankenhaus Recklinghausen, Recklinghausen, Germany.<br /><searchLink fieldCode="AU" term="%22Auer-Grumbach+M%22">Auer-Grumbach M</searchLink>; Department of Orthopedics and Trauma-Surgery, University Hospital Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Butryn+M%22">Butryn M</searchLink>; Deutsches Zentrum für Neurodegenerative Erkrankungen Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Winkler+J%22">Winkler J</searchLink>; Department of Molecular Neurology, University Hospital Erlangen, Erlangen, Germany.; Center for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Timmann+D%22">Timmann D</searchLink>; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+B%22">van de Warrenburg B</searchLink>; Department of Neurology, Radboud University medical center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Schüle+R%22">Schüle R</searchLink>; Hertie Institute for Clinical Brain Research and Center of Neurology, University Hospital Tübingen, Tübingen, Germany.; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schöls+L%22">Schöls L</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Site Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ossowski+S%22">Ossowski S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Weber+JJ%22">Weber JJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. jonaszjeremiasz.weber@rub.de.; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany. jonaszjeremiasz.weber@rub.de.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Tübingen, Germany. tobias.haack@med.uni-tuebingen.de.
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  Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2026 Feb 14; Vol. 17 (1), pp. 1698. <i>Date of Electronic Publication: </i>2026 Feb 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101528555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-1723 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220411723%22">20411723 </searchLink><i>NLM ISO Abbreviation: </i>Nat Commun <i>Subsets: </i>MEDLINE
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      – TitleFull: Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
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          Dates:
            – D: 14
              M: 02
              Text: 2026 Feb 14
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1