Results 111 to 120 of about 43,935 (132)

Nonaka, D

, 2017
Nonaka, D
core  

Quantitative Guanidinium CEST-Based pH Mapping at 3 T in Healthy and Pathological Muscle. [PDF]

NMR Biomed
Henriet V, Baudin PY, Marty B, Lapert M, Reyngoudt H.   +4 more
europepmc   +1 more source

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
europepmc   +1 more source

Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype [PDF]

Cytology and Genetics, 2023
Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior tibialis weakness.
Mustafa Doğan, Ekrem Akbulut, Alper Gezdirici, Recep Eroz, Sevcan Tuğ Bozdoğan   +4 more
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Nonaka Myopathy: First Report of a Rare Mutation from India (c.1571C>T)

Nonaka Myopathy: First Report of a Rare Mutation from India (c.1571C>T)
A young male presented with long-standing foot drop with no significant personal or family history. On detailed clinical examination, the patient exhibited quadriparesis, distal more than proximal, predominantly affecting the lower limbs. Initial evaluation at another centre revealed no significant abnormalities.
exaly   +3 more sources

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
openaire   +1 more source

Nonaka meets Giddens: A critique [PDF]

Knowledge Management Research and Practice, 2006
Nonaka's recent incorporation of Giddens into the knowledge movement is superficial and problematic. The incorporation accepts uncritically Giddens's controversial conceptions of structure and agency, avoids his concerns of power and domination,
Zhichang Zhu
exaly   +1 more source

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
openaire   +1 more source

Atypical Presentation of a Rare Disease; Nonaka Myopathy: A Case Report

PM&R, 2013
Navdeep S. Jassal, Anthony Oreste, Dayna McCarthy   +2 more
openaire   +1 more source

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
openaire   +1 more source