Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jean Yves Mahé"'
Autor:
Guillaume Banneau, Laurène Tissier, Sandra Mercier, Julien Buratti, Bophara Kol, Samia Ait Said, Giovanni Stevanin, Jean-Madeleine de Sainte Agathe, Yann Péréon, Jean-Yves Mahé, Eric LeGuern
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28371⟩
Movement Disorders, In press, ⟨10.1002/mds.28371⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28371⟩
Movement Disorders, In press, ⟨10.1002/mds.28371⟩
Background Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd135acfcc17a316ec79983ee3617f17
https://hal.archives-ouvertes.fr/hal-03059847/document
https://hal.archives-ouvertes.fr/hal-03059847/document
Autor:
W.H. Irwin McLean, Sébastien Küry, Stéphane Bézieau, Uchenna Agbim, Florence Caillon, Jacinda B. Sampson, Arnold Munnich, Perrine Brunelle, Mythily Ganapathi, Christel Thauvin, Rosemarie Watson, Nonhlanhla P. Khumalo, Armelle Magot, Sandra Mercier, Antoine Hamel, Nathalie Bodak, Thomas Besnard, Eve Puzenat, Flora Breheret, Jean Marie Mussini, Valérie Cormier-Daire, Christian L. Laboisse, Maeve A. McAleer, Juliette Piard, Bongani M. Mayosi, Romain K. Gherardi, Frances J.D. Smith, Alice Goldenberg, Emmanuelle Salort-Campana, Grainne M. O'Regan, Nadem Soufir, Yann Péréon, Julie Perrier, Albert David, Alan D. Irvine, Dominique Figarella-Branger, Emmanuelle Fleurence, Bruno Eymard, Peter L. Nagy, Brigitte Chabrol, Caroline Kannengiesser, Kurenai Tanji, Christina Ulane, Jean Yves Mahé, Stuart A. MacGowan, Sébastien Barbarot, Laurence Faivre, Cédric Le Caignec, Jeanine Igual, Chantal Bou-Hanna, Dominique Israël-Biet, C. Méni, Jeffrey G. Odel, Stéphanie Mallet
Publikováno v:
Orphanet Journal of Rare Diseases
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f0d9adfd16251a397b56b92a4e8b25
http://hdl.handle.net/11427/34599
http://hdl.handle.net/11427/34599
Publikováno v:
EMC - Neurologie. 1:1-10