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. |
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| 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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| ISSN: | 1471-2377 |
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| DOI: | 10.1186/s12883-024-03846-2 |
