المؤلفون: Tessa, Alessandra, Santorelli, Filippo Maria, Saffari, Afshin, Kellner, Melanie, Jordan, Catherine, Rosengarten, Helena, Mo, Alisa, Zhang, Bo, Strelko, Oleksandr, Neuser, Sonja, Davis, Marie Y, Yoshikura, Nobuaki, Naonobu Futamura, Takeuchi, Tomoya, Nabatame, Shin, Ishiura, Hiroyuki, Tsuji, Shoji, Assmann, Birgit, Yoon, Grace, Trombetta, Bianca A, Kivisäkk, Pia, Eichler, Florian, Haitian Nan, Takiyama, Yoshihisa, Sahin, Mustafa, Blackstone, Craig, Yang, Edward, Schüle, Rebecca, Ebrahimi-Fakhari, Darius

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8156bb501d94e982c3f5a0a9c5afb907

المؤلفون: Saffari, Afshin, Kellner, Melanie, Jordan, Catherine, Rosengarten, Helena, Mo, Alisa, Zhang, Bo, Strelko, Oleksandr, Neuser, Sonja, Davis, Marie Y, Yoshikura, Nobuaki, Futamura, Naonobu, Takeuchi, Tomoya, Nabatame, Shin, Ishiura, Hiroyuki, Tsuji, Shoji, Aldeen, Huda Shujaa, Cali, Elisa, Rocca, Clarissa, Houlden, Henry, Efthymiou, Stephanie

المصدر: Brain: A Journal of Neurology; May2023, Vol. 146 Issue 5, p2003-2015, 13p

مصطلحات موضوعية: FAMILIAL spastic paraplegia, MOVEMENT disorders, MOLECULAR spectra, EXTRAPYRAMIDAL disorders, DELAYED diagnosis, CORPUS callosum, LEARNING disabilities

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المؤلفون: Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Kellner M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Jordan C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Rosengarten H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; ICCTR Biostatistics and Research Design Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Strelko O; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Davis MY; Department of Neurology, University of Washington, Seattle, WA, USA.; Department of Neurology, VA Puget Sound Healthcare System, Seattle, WA, USA., Yoshikura N; Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan., Futamura N; Department of Neurology, National Hospital Organization Hyogo-Chuo National Hospital, Ohara, Sanda, Japan., Takeuchi T; Department of Neurology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Aichi, Japan., Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Tsuji S; Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan., Aldeen HS; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Rocca C; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Assmann B; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Yoon G; Divisions of Clinical and Metabolic Genetics and Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Trombetta BA; Alzheimer's Clinical and Translational Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Kivisäkk P; Alzheimer's Clinical and Translational Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Eichler F; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan., Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.; Department of Neurology, Fuefuki Central Hospital, Yamanashi, Japan., Tessa A; Department of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Santorelli FM; Department of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Blackstone C; Movement Disorders Division, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Yang E; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA.

المصدر: Brain : a journal of neurology [Brain] 2023 May 02; Vol. 146 (5), pp. 2003-2015.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Spastic Paraplegia, Hereditary*/genetics, Humans ; Child, Preschool ; Cross-Sectional Studies ; Delayed Diagnosis ; Proteins/genetics ; Mutation

SCR Disease Name: Spastic paraplegia 15, autosomal recessive