Results 121 to 130 of about 2,940 (145)

Seeding-competent TDP-43 persists in human patient and mouse muscle. [PDF]

Sci Transl Med
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC.   +12 more
europepmc   +1 more source

Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders. [PDF]

PLoS One
de Albuquerque BHDR, Lanza DCF.
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Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

Cytology and Genetics, 2023
Mustafa Doğan, Ekrem Akbulut, Alper Gezdirici, Recep Eroz, Sevcan Tuğ Bozdoğan   +4 more
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Clinical and genotypic characteristics of patients with Nonaka distal myopathy at a specialized clinic in Salvador, BA

Arquivos de Neuro-Psiquiatria
Case presentation: Distal myopathy of the Nonaka type is a rare genetic disorder, with an estimated prevalence of 1 in 1,000,000. It is progressive and inherited autosomally recessively, caused by mutations in the GNE gene. This gene encodes the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, vital for sialic acid biosynthesis ...
Ananda Vieira de Lima Almeida, Rafael Amaral de Matos Albuquerque, Maria Carolina Freitas Ferreira, Laís Brandão Mota, Guiniver Couto Almeida, Marcela Câmara Machado Costa, Marilaine Matos de Menezes Ferreira   +6 more
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GNE (Nonaka) distal myopathy with moderately high CPK and slow progression – A Sri Lankan case with a novel genetic variant

Journal of the Neurological Sciences, 2023
Ravindra Inaththappulige, Ishani Rajapakshe, Bimsara Senanayake   +2 more
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Atypical Presentation of a Rare Disease; Nonaka Myopathy: A Case Report

PM&R, 2013
Navdeep S. Jassal, Anthony Oreste, Dayna McCarthy   +2 more
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G.P.2 04 A GNE knockout mouse expressing human V572L mutation develops features similar to Nonaka myopathy or distal myopathy with rimmed vacuoles (DMRV)

Neuromuscular Disorders, 2006
M.C. Malicdan, S. Noguchi, Y.K. Hayashi, I. Nonaka, I. Nishino   +4 more
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Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases

Neuromuscular Disorders, 1997
J.M. Fernandez, J. Gamez, C. Cervera, J.A. Cortes, F. Branas, A. Teijeiro, R. Fernandez, S. Teijeira, C. Navarro   +8 more
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