Results 141 to 150 of about 2,143,667 (228)

Element 6 Chairs and Course List Core General Education Assessment, 2018-2019

, 2019
The Chairs and Course List for Element 6 - Natural Science as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core  

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]

Front Pediatr
Sanghamitra S, Mandala R, Budh H, Arora Y, Rivera-Hernandez P, Hpa NJ, Elberson V, Rawat M, Mani S.   +8 more
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

Hum Mutat
de Feraudy Y, Maino A, Boedec M, Lornage X, Romero NB, Monges S, Lubieniecki F, Foncuberta ME, Tard C, Maurage CA, Csanyi M, Marcorelles P, Stojkovic T, Feasson L, Fradin M, Gousse G, Laugel V, Masingue M, Nadaj-Pakleza A, Bevilacqua JA, Neb Study Group, Rendu J, Bohm J, Biancalana V, Laporte J.   +24 more
europepmc   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +1 more source

A severe and fatal course of statin-induced necrotizing autoimmune myopathy: a case report. [PDF]

J Med Case Rep
Saleh A, Sighaka DAS, Panyala N, Abid H, Batarseh M, Yuhico RJO.   +5 more
europepmc   +1 more source

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study. [PDF]

J Neuromuscul Dis
Prikhodko O, Vetter TA, Colombo S, Freitag C, Nijkamp D, Eyler L, Thielemans L, Baets J, Stemmerik M, Vissing J, Quinlivan R, Guglieri M, Montagnese F, Schoser B, Braun F, Schara U, Leeuwenberg KE, van Alfen N, Lawlor MW, Cowling BS, Voermans NC.   +20 more
europepmc   +1 more source

Congenital myopathy with internal nuclei and atypical cores [PDF]

, 2020
openaire   +1 more source

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]

J Clin Med
Sadeh M, Dabby R.
europepmc   +1 more source

Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia-A Case Report. [PDF]

Case Rep Neurol Med
de Melo RSES, Mitsunaga Júnior JK, da Silva AMS, Souza BW, Santos JM, Andrade PV, Oliveira ASB, Sobreira CFDR, Vainzof M, da Silva HCA.   +9 more
europepmc   +1 more source

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes. [PDF]

Front Med (Lausanne)
Rinella S, Anastasio G, Sapuppo A, Bianco ML, Leonardi R, Pavone P, Ruggieri M, Polizzi A.   +7 more
europepmc   +1 more source