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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux, Jean-Loup; Firanescu, Cristina; Coarelli, Giulia; Kvarnung, Malin; Rodrigues, Rita; Pegoraro, Elena; Tazir, Meriem; Taithe, Frédéric; Valter, Rémi; Huin, Vincent; Lidström, Kristina; Banneau, Guillaume; Morais, Sara; Parodi, Livia; Coutelier, Marie; Papin, Mélanie; Svenningsson, Per; Azulay, Jean-Philippe; Alonso, Isabel; Nilsson, Daniel; Brice, Alexis; Le Guern, Eric; Press, Rayomand; Vazza, Giovanni; Loureiro, José Leal; Goizet, Cyril; Durr, Alexandra; Paucar, Martin; Stevanin, Giovanni.
Afiliação
  • Méreaux JL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Firanescu C; Rouen University Hospital, Rouen, France.
  • Coarelli G; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Kvarnung M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Rodrigues R; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Pegoraro E; APHP, National Reference Center for Rare Diseases 'Neurogenetic', Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Tazir M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Taithe F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Valter R; Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
  • Huin V; Department of Neurosciences DNS, ERN Neuromuscular Centre, University of Padua, Padua, Italy.
  • Lidström K; Laboratoire de Recherche en Neurosciences, Université d'Alger 1, Service de Neurologie, CHU Mustapha, Place du 1er Mai, 16000, Alger, Algeria.
  • Banneau G; CHU de Clermont-Ferrand, 63000, Clermont-Ferrand, France.
  • Morais S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Parodi L; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Coutelier M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Papin M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Svenningsson P; APHP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Azulay JP; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Alonso I; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Nilsson D; UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
  • Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Le Guern E; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Press R; Department of Biology, University of Padua, Padua, Italy.
  • Vazza G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Loureiro JL; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Goizet C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, DMU Neuroscience 6, Paris, France.
  • Durr A; Paris Sciences et Lettres University, EPHE, Paris, France.
  • Paucar M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Stevanin G; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Neurogenetics ; 22(1): 71-79, 2021 03.
Article em En | MEDLINE | ID: mdl-33486633
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Calpaína / Paraplegia Espástica Hereditária / Atrofia Óptica / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Calpaína / Paraplegia Espástica Hereditária / Atrofia Óptica / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article