Results 201 to 210 of about 277,897 (298)

Pre- and post-skeletal muscle biopsy quantitative magnetic resonance imaging reveals correlations with histopathological findings. [PDF]

Eur J Neurol
Güttsches AK, Forsting J, Kneifel M, Rehmann R, De Lorenzo A, Enax-Krumova E, Froeling M, Vorgerd M, Schlaffke L.   +8 more
europepmc   +1 more source

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. [PDF]

Neuromuscul Disord, 2021
Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS.   +10 more
europepmc   +1 more source

Muscle Biopsy [PDF]

, 2020
openaire   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Patient experiences of muscle biopsy in idiopathic inflammatory myopathies: a cross-sectional survey. [PDF]

Rheumatol Int
Sutu B, Maxwell S, Oon S, Ross L, Day J.
europepmc   +1 more source

What Every Neuropathologist Needs to Know: The Muscle Biopsy. [PDF]

J Neuropathol Exp Neurol, 2021
europepmc   +1 more source

What Every Neuropathologist Needs to Know: The Muscle Biopsy. [PDF]

J Neuropathol Exp Neurol, 2020
Nix JS, Moore SA.
europepmc   +1 more source

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease. [PDF]

Front Neurol, 2021
Cavalli M, Cardani R, Renna LV, Toffetti M, Villa L, Meola G.   +5 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Detection of pTDP-43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis. [PDF]

Brain Pathol
Zhang QJ, Lin J, Wang YL, Chen L, Ding Y, Zheng FZ, Song HH, Lv AW, Li YY, Guo QF, Lin MT, Hu W, Xu LQ, Zhao WL, Fang L, Cui MC, Fu ZF, Chen WJ, Zhang J, Wang ZQ, Wang N, Fu Y.   +21 more
europepmc   +1 more source