Výsledky vyhledávání - "Amelie, Pandraud"

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

Autor: Bernadett, Kalmar, Amy, Innes, Klaus, Wanisch, Alicia Koyen, Kolaszynska, Amelie, Pandraud, Gavin, Kelly, Andrey Y, Abramov, Mary M, Reilly, Giampietro, Schiavo, Linda, Greensmith

Publikováno v: Human Molecular Genetics

Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f0205d6180e555d7db343f90a3fbb3a
https://pubmed.ncbi.nlm.nih.gov/28595321

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Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

Autor: Atchayaram Nalini, Henry Houlden, Kin Y. Mok, Amelie Pandraud

Publikováno v: Journal of the Neurological Sciences

IntroductionMadras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cf1f1bb884ea7b4f674c3ac44bc8c2

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Autor: Javier Simón-Sánchez, Janel O. Johnson, Andrew B. Singleton, Peter E. Clayton, Francesco Muntoni, Sampath Arepalli, J. Raphael Gibbs, J. Andoni Urtizberea, Henry Houlden, A. Reghan Foley, Amelie Pandraud, André Mégarbané, Dena G. Hernandez, Mary M. Reilly, Yevgeniya Abramzon

Publikováno v: Brain. 135:2875-2882

Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (former

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0481d8fd2994bf797ceeb239f8314c6
https://doi.org/10.1093/brain/aws161

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Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Autor: Julian Blake, Gabrielle L. Davidson, Katherine A. Fawcett, Yo-Tsen Liu, Henry Houlden, James M. Polke, Victoria Castleman, Sinéad M. Murphy, Mary M. Reilly, Matilde Laura, Alexander M. Rossor, Mary B. Davis, Amelie Pandraud, Gita Ramdharry, K Bull, Michael P. Lunn, Hadi Manji

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 83:706-710

Background Charcot–Marie–Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa0d64a01cfba0477489c92480667c59
https://doi.org/10.1136/jnnp-2012-302451

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Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

Autor: Georgios Koutsis, Georgia Karadima, Marios Panas, Nicholas W. Wood, Reema Paudel, Amelie Pandraud, Henry Houlden, MG Sweeney

Publikováno v: Journal of Neurology. 259:1874-1878

Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenoco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d392b67032a4ea9b999ccfcdee335dd
https://doi.org/10.1007/s00415-012-6430-9

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A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

Autor: Jason Hehir, Amelie Pandraud, Henry Houlden, Dena G. Hernandez, Mike A. Nalls, John Hardy, Alan M. Pittman, Khadija Rantell, Niall Quinn, Seth Love, Christos Proukakis, Eleanna Kara, Andrew B. Singleton, Nicola J. Giffin, Elizabeth Nacheva, Tamas Revesz, Janice L. Holton, Kailash P. Bhatia, Aoife Kiely

Publikováno v: JAMA neurology. 71(9)

Importance: α-Synuclein (SNCA) locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown. Objectives: To report a novel family carrying a heterozygous 6.4 Mb dupl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb269e6c1f967d5e8a8c5a29510ee6c
https://pubmed.ncbi.nlm.nih.gov/25003242

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