Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. [PDF]
Eur J Hum Genet, 2023 Haghighi A +6 more
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Nemaline Rods in Canine Myopathies: 4 Case Reports and Literature Review [PDF]
, 1998 Agnès J. Delauche +5 more
openalex +1 more source
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]
Neurol GenetHildebrandt C +12 more
europepmc +1 more source
Proteomic profiling of sporadic late-onset nemaline myopathy. [PDF]
Ann Clin Transl Neurol, 2022 Naddaf E +6 more
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Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]
Eur Heart J Case RepGuo C, Dou JH, Zhao S, Zhang Y.
europepmc +1 more source
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. [PDF]
Am J Pathol, 2023 Tinklenberg JA +16 more
europepmc +1 more source
Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study. [PDF]
Nurs RepMerchán Arjona R +3 more
europepmc +1 more source
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy. [PDF]
Exp Cell Res, 2023 Gartz M +6 more
europepmc +1 more source