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Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

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Title: Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.
Authors: Baille G; Delafontaine Hospital Center, Department of Neurology, Saint-Denis, F93200, France., Geoffre N; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France., Wissocq A; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France., Planté-Bordeneuve P; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France., Mutez E; Department of Neurology and Movement disorders, CHU Lille, Lille, F-59000, France.; Univ. Lille, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, Inserm, Lille, F-59000, France., Huin V; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France. vincent.huin@inserm.fr.; Univ. Lille, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, Inserm, Lille, F-59000, France. vincent.huin@inserm.fr.; Inserm UMRS1172, 'Alzheimer & Tauopathies', Bâtiment Biserte, Place de Verdun, Lille Cedex, 59045, France. vincent.huin@inserm.fr.
Source: BMC neurology [BMC Neurol] 2024 Sep 17; Vol. 24 (1), pp. 348. Date of Electronic Publication: 2024 Sep 17.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Baille+G%22">Baille G</searchLink>; Delafontaine Hospital Center, Department of Neurology, Saint-Denis, F93200, France.<br /><searchLink fieldCode="AU" term="%22Geoffre+N%22">Geoffre N</searchLink>; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France.<br /><searchLink fieldCode="AU" term="%22Wissocq+A%22">Wissocq A</searchLink>; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France.<br /><searchLink fieldCode="AU" term="%22Planté-Bordeneuve+P%22">Planté-Bordeneuve P</searchLink>; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France.<br /><searchLink fieldCode="AU" term="%22Mutez+E%22">Mutez E</searchLink>; Department of Neurology and Movement disorders, CHU Lille, Lille, F-59000, France.; Univ. Lille, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, Inserm, Lille, F-59000, France.<br /><searchLink fieldCode="AU" term="%22Huin+V%22">Huin V</searchLink>; Department of Toxicology and Genopathies, UF Neurobiology, CHU Lille, Lille, F-59000, France. vincent.huin@inserm.fr.; Univ. Lille, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, Inserm, Lille, F-59000, France. vincent.huin@inserm.fr.; Inserm UMRS1172, 'Alzheimer & Tauopathies', Bâtiment Biserte, Place de Verdun, Lille Cedex, 59045, France. vincent.huin@inserm.fr.
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  Data: <searchLink fieldCode="JN" term="%22100968555%22">BMC neurology</searchLink> [BMC Neurol] 2024 Sep 17; Vol. 24 (1), pp. 348. <i>Date of Electronic Publication: </i>2024 Sep 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2377 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712377%22">14712377 </searchLink><i>NLM ISO Abbreviation: </i>BMC Neurol <i>Subsets: </i>MEDLINE
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