Results 181 to 190 of about 12,800 (285)

Nonaka Myopathy—Adult Distal-onset Myopathy with Unique Topographical Weakness: A Case Report

Amit Agarwal, Vineet Kumar Mishra, R. K. Sureka, Jatinkumar Jain, Himanshu Kaushal   +4 more
openalex   +1 more source

Abnormal lysosomal and ubiquitin‐proteasome pathways in 19p13.3 distal myopathy [PDF]

, 2004
Claudia Di Blasi, Behzad Moghadaszadeh, José Berciano, Tiziana Negri, Alessio Giavazzi, F. Cornelio, Lucía Morandi, Marina Mora   +7 more
openalex   +1 more source

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle. [PDF]

J Hum Genet
Inoue M.
europepmc   +1 more source

MYOPATHY OF THE DISTAL TYPE AND ITS RELATION TO THE NEURAL FORM OF MUSCULAR ATROPHY (CHARCOT-MARIE, TOOTH TYPE)

, 1907
WILLIAM G. SPILLER
openalex   +2 more sources

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations [PDF]

, 2018
Bucelli, Robert C, et al,, Lee, Youjin, Weihl, Conrad C   +3 more
core   +1 more source

O-2. Phenotypic spectrum of laing distal myopathy. Study of an endemic focus in La Safor, Valencia, Spain.

, 2009
Nuria Muelas, Peter Hackman, H. Luque, M C Garcés, Inmaculada Azorı́n, Tiina Suominen, Teresa Sevilla, F. Mayordomo, L Gómez-Perpiñán, J.M. Millán, B. Udd, Juan J. Vílchez   +11 more
openalex   +1 more source

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. [PDF]

Neurology
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J.   +12 more
europepmc   +1 more source

Distal myopathy caused by homozygous missense mutations in the nebulin gene [PDF]

, 2007
Carina Wallgren‐Pettersson, Vilma‐Lotta Lehtokari, Hannu Kalimo, Anders Paetau, E. Matti Nuutinen, Peter Hackman, Caroline A. Sewry, Katarina Pelin, Bjarne Udd   +8 more
openalex   +1 more source

Distal myopathy [PDF]

, 2020
openaire   +1 more source

Novel Mutations of theGNEGene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression [PDF]

, 2012
Yasuko Ikeda‐Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Kōji Abe   +7 more
openalex   +1 more source