Results 111 to 120 of about 2,650 (160)

Correction: Accumulation of human full-length tau induces degradation of nicotinic acetylcholine receptor α4 via activating calpain-2. [PDF]

Sci Rep
Yin Y, Wang Y, Gao D, Ye J, Wang X, Fang L, Wu D, Pi G, Lu C, Zhou XW, Yang Y, Wang JZ.   +11 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy. [PDF]

Front Genet
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M.   +17 more
europepmc   +1 more source

The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion. [PDF]

Postep Psychiatr Neurol
Finsterer J.
europepmc   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study. [PDF]

Ann Clin Transl Neurol
Hunn SM, Alfano LN, Jones A, Butler A, Lowes LP, Iammarino MA, Reash NF, Pietruszewski L, Sasidharan S, Currence M, Statland JM, Strahler T, Will R, Wicklund M, Dixon S, Augsburger R, Mozaffar T, Laubscher KM, Mockler SRH, Mathews KD, Stinson N, Leung DG, Stark MM, Horton RA, Kang PB, James MK, Clause A, Weihl CC, Johnson NE, GRASP‐LGMD Consortium.   +29 more
europepmc   +1 more source

Clinical characteristics and genetic causes of unexplained pediatric liver disease. [PDF]

World J Hepatol
Chen Y, Wang ZY, Chen BQ, Qi YJ, Liu HY, Shi WX, Guo L, Liu Z, Sun LF.   +8 more
europepmc   +1 more source

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review. [PDF]

BMC Musculoskelet Disord
Hong X, Jiang F, Wang L.
europepmc   +1 more source

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications. [PDF]

Am J Case Rep
Maya-González C, Díaz De Ståhl T, Wessman S, Taylan F, Tesi B, Lagerstedt-Robinson K, Tettamanti G, Dukic M, Poluha A, Ljungman G, Nordgren A.   +10 more
europepmc   +1 more source

N6-methyladenosine improves porcine longissimus dorsi muscle quality by regulating myofiber differentiation. [PDF]

BMC Genomics
Yin C, Yang S, Huang Y, Zhou Z, Huang J, Yang B, Huang L.   +6 more
europepmc   +1 more source

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population. [PDF]

J Korean Med Sci
Kim SH, Choi Y, Choi YC, Kim SW, Shin HY, Park HJ.   +5 more
europepmc   +1 more source