Results 231 to 240 of about 261,565 (352)

Cosmetic incision for paediatric muscle biopsy. [PDF]

Ann R Coll Surg Engl
Leone F, Durell J, Dagash H, Patwardhan N.   +3 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Muscle Biopsy Abnormalities Differ Between Charcot-Marie-Tooth Type 1 and 2: Reflect Different Pathophysiology?

, 2002
Kristian Borg, UllaBritt Ericson-Gripenstedt   +1 more
openalex   +1 more source

Skeletal muscle involvement by limited Gleason score 6 adenocarcinoma of the prostate on needle biopsy is not associated with adverse findings at radical prostatectomy [PDF]

, 2010
Athanase Billis
openalex   +1 more source

Increased expression of vascular cell adhesion molecule 1 in muscle biopsy samples from juvenile dermatomyositis patients with short duration of untreated disease is regulated by miR‐126 [PDF]

, 2012
Erin Kim, Joan M. Cook‐Mills, Gabrielle Morgan, Simone Treiger Sredni, Lauren M. Pachman   +4 more
openalex   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Correction: Muscle biopsy long-chain omega-3 polyunsaturated fatty acid compositions, IMF and FMP in Australian pasture-based Bowen Genetics Forest Pastoral Angus, Hereford, and Wagyu Beef Cattle. [PDF]

BMC Vet Res
Otto JR, Mwangi FW, Pewan SB, Adegboye OA, Malau-Aduli AEO.   +4 more
europepmc   +1 more source

Ultrasound-guided muscle biopsy: a practical alternative for investigation of myopathy. [PDF]

Skeletal Radiol, 2020
Raithatha A, Ashraghi MR, Lord C, Limback-Stanic C, Viegas S, Amiras D.   +5 more
europepmc   +1 more source

Muscle Biopsy [PDF]

, 2012
Lauren M. Cornall, Deanne H. Hryciw, Michael L. Mathai, Andrew J. McAinch   +3 more
openalex   +1 more source

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

American Journal of Hematology, EarlyView.
Nia Choi, Deborah Schady, Tim Lotze, Jill Ann Jarrell, Alexandra Rodriguez‐Hernandez, Sandra Aziz, Karen K. Moeller, Joanna S. Yi, Suzanne Woodbury, Andrea N. Marcogliese, Zoann E. Dreyer, Eric S. Schafer   +11 more
wiley   +1 more source