Results 171 to 180 of about 561,973 (252)

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Neurology, 2015
R. Bucelli, Khalid Arhzaouy, A. Pestronk, S. Pittman, L. Rojas, C. Sue, A. Evilä, P. Hackman, B. Udd, M. Harms, C. Weihl   +10 more
semanticscholar   +1 more source

Distal nebulin myopathy [PDF]

, 2020
openaire   +1 more source

Expanding the Molecular and Pathologic Spectrum of <i>HSPB8</i> Myopathy and Distal Motor Neuropathy. [PDF]

Neurol Genet
Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.   +7 more
europepmc   +1 more source

Idiopathic Inflammatory Myopathy With Normal Creatine Kinase Levels in an Elderly Patient: A Diagnostic Challenge. [PDF]

Cureus
Chilakuluri P, Debnath V, Barakat A, Boussios S, Sayani S.   +4 more
europepmc   +1 more source

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +1 more source

Sjögren's Syndrome With Distal Renal Tubular Acidosis and Hypokalemic Myopathy in Pregnancy: A Rare Case. [PDF]

Clin Case Rep
Khan N, Ali A, Khan S, Ghayour U, Yadav DK, Abdullah A.   +5 more
europepmc   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source

A Rare Case of Anti-HMGCR-Positive Immune-Mediated Necrotizing Myopathy Associated With Statin Use. [PDF]

Cureus
Okoli ML, Okoli IC, Anasobi RT, Okoli AC, Madueke AF, Okoli IC.   +5 more
europepmc   +1 more source