KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Autor: Emeline Mundwiller, Bat-El Zimmerman, Israela Lerer, Hamid Azzedine, Gabor Gyapay, Stephan Klebe, Vincent Meyer, Wassila Carpentier, Alexander Lossos, Agnès Rastetter, Elodie Martin, Laurent Orlando, Alexis Brice, Moriya Gamliel, Cecilia Marelli, Alexandra Durr, Magdalena Nawara, Ruth Sheffer, Marion Gaussen, Delphine Bouteiller, Khalid H. El-Hachimi, Giovanni Stevanin, Adel Misk

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 20 (6), pp.645-649. ⟨10.1038/ejhg.2011.261⟩
European Journal of Human Genetics, 2012, 20 (6), pp.645-649. ⟨10.1038/ejhg.2011.261⟩

International audience; The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b55a9c044742b29eb93c172ef45b149
https://doi.org/10.1038/ejhg.2011.261

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Autor: Marion Gaussen, Alexander Lossos, Roland Lill, Bat-El Zimmerman, Israela Lerer, Alexis Brice, Ruth Sheffer, Giovanni Stevanin, Shlomo Dotan, Liat Chamma, John M. Gomori, Penina Ponger, Claudia Stümpfig, Moriya Asulin, Vardiella Meiner, Adel Misk, Emeline Mundwiller

Publikováno v: Neurology. 84(7)

Objective: To present the clinical, molecular, and cell biological findings in a family with an autosomal recessive form of hereditary spastic paraplegia characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7dc65a087269b61021adba9b3e0f63
https://pubmed.ncbi.nlm.nih.gov/25609768