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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

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Title: From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Authors: Degoutin M; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Université de Bordeaux, UFR Des Sciences médicales, Bordeaux, France., Angelini C; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France., Bar C; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.; Service de Neuropédiatrie, CHU Bordeaux, Bordeaux, France., El Khedoud WA; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Barnerias C; Service de Neuropédiatrie, CR Neuromusculaire Necker, Hôpital Necker-Enfants Malades, Paris, France., Boulariah-Hadjou R; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Estiar MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ewenczyk C; Sorbonne Université, Institut du Cerveau, INSERM, CNRS, APHP, Paris, France., Gan-Or Z; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Lacombe D; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares Anomalies du développement Embryonnaire, CHU Bordeaux, Bordeaux, France.; Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) INSERM U1211, Université de Bordeaux, Bordeaux, France., Lefeuvre C; Service de Neurologie, APHP, Raymond Poincaré, Garches, France., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Messaoud-Khelifi M; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rouleau GA; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Suchowersky O; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Guillaud-Bataille M; Département de génétique médicale, AP-HP, Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, CGMC, Hôpital Pitié-Salpêtrière, Paris, France., Stevanin G; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France., Goizet C; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.
Source: European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e70025.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
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  Data: <searchLink fieldCode="AU" term="%22Degoutin+M%22">Degoutin M</searchLink>; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Université de Bordeaux, UFR Des Sciences médicales, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Angelini+C%22">Angelini C</searchLink>; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Bar+C%22">Bar C</searchLink>; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.; Service de Neuropédiatrie, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22El+Khedoud+WA%22">El Khedoud WA</searchLink>; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Barnerias+C%22">Barnerias C</searchLink>; Service de Neuropédiatrie, CR Neuromusculaire Necker, Hôpital Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boulariah-Hadjou+R%22">Boulariah-Hadjou R</searchLink>; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Estiar+MA%22">Estiar MA</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ewenczyk+C%22">Ewenczyk C</searchLink>; Sorbonne Université, Institut du Cerveau, INSERM, CNRS, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gan-Or+Z%22">Gan-Or Z</searchLink>; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares Anomalies du développement Embryonnaire, CHU Bordeaux, Bordeaux, France.; Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) INSERM U1211, Université de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lefeuvre+C%22">Lefeuvre C</searchLink>; Service de Neurologie, APHP, Raymond Poincaré, Garches, France.<br /><searchLink fieldCode="AU" term="%22Majethia+P%22">Majethia P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Messaoud-Khelifi+M%22">Messaoud-Khelifi M</searchLink>; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria.<br /><searchLink fieldCode="AU" term="%22Narayanan+DL%22">Narayanan DL</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Rouleau+GA%22">Rouleau GA</searchLink>; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Suchowersky+O%22">Suchowersky O</searchLink>; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Guillaud-Bataille+M%22">Guillaud-Bataille M</searchLink>; Département de génétique médicale, AP-HP, Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, CGMC, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Goizet+C%22">Goizet C</searchLink>; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.
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