Your browser doesn't support javascript.
loading
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne, Benjamin; Dauriat, Benjamin; Richard, Laurence; Lamari, Foudil; Ghorab, Karima; Magy, Laurent; Benkirane, Mehdi; Perani, Alexandre; Marquet, Valentine; Calvas, Patrick; Yardin, Catherine; Bourthoumieu, Sylvie.
Affiliation
  • Ganne B; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France. benjamin.ganne@chu-limoges.fr.
  • Dauriat B; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France.
  • Richard L; Department of Neurology, National Reference Center for "Rare Peripheral Neuropathies", Dupuytren University Hospital (CHU Limoges), University of Limoges, 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.
  • Lamari F; APHP Sorbonne University; Pitié-Salpêtrière University Hospital, DMU Biogem; Metabolic Biochemistry Department, 75013, Paris, France.
  • Ghorab K; Department of Neurology, National Reference Center for "Rare Peripheral Neuropathies", Dupuytren University Hospital (CHU Limoges), University of Limoges, 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.
  • Magy L; Department of Neurology, National Reference Center for "Rare Peripheral Neuropathies", Dupuytren University Hospital (CHU Limoges), University of Limoges, 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.
  • Benkirane M; Rare Diseases Laboratory of Genetics EA7402, University Institute of Clinical Research, Montpellier University, CHU Montpellier, Montpellier, France, PhyMedExp UMR9214 CNRS-UM U1046 INSERM, Montpellier, France.
  • Perani A; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France.
  • Marquet V; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France.
  • Calvas P; Reference Centre for Rare Genetics Diseases in Ophthalmology, Purpan Hospital, Toulouse University, 31052, Toulouse, France.
  • Yardin C; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France.
  • Bourthoumieu S; Cytogenetic, medical genetic and reproductive biology department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, 87042 Limoges, France, Limoges University, CNRS, XLIM, UMR 7252, F-87000, Limoges, France.
Neurol Sci ; 43(11): 6517-6527, 2022 Nov.
Article de En | MEDLINE | ID: mdl-35925454
Sujet(s)
Mots clés
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Gangliosidoses à GM2 Type d'étude: Prognostic_studies Limites: Adult / Humans / Male Langue: En Journal: Neurol Sci Sujet du journal: NEUROLOGIA Année: 2022 Type de document: Article Pays d'affiliation: France
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Gangliosidoses à GM2 Type d'étude: Prognostic_studies Limites: Adult / Humans / Male Langue: En Journal: Neurol Sci Sujet du journal: NEUROLOGIA Année: 2022 Type de document: Article Pays d'affiliation: France