Results 131 to 140 of about 25,797 (180)

[Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xie T, Ge JJ, Zhang ZM, Wu DW, Xu YP, Shi LP, Ma XL, Chen Z.   +7 more
europepmc   +1 more source

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy. [PDF]

Sci Prog
Flores-Muñoz C, Labraña-Allende M, Mattar-Araos M, Gomez-Soto B, Silva-Guzman J, Prado-Vega L, Arriagada-Díaz J, Guerra-Fernández MJ, Bevilacqua JA, Bitoun M, Cárdenas AM, Ardiles AO, Gonzalez-Jamett AM.   +12 more
europepmc   +1 more source

Centronuclear Myopathy 1 [PDF]

, 2020
openaire   +1 more source

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. [PDF]

Neuromuscul Disord, 2019
Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M.   +5 more
europepmc   +1 more source

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. [PDF]

Neurology, 2018
Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.   +21 more
europepmc   +1 more source

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. [PDF]

Acta Neuropathol Commun, 2018
Wang H, Schänzer A, Kampschulte B, Daimagüler HS, Logeswaran T, Schlierbach H, Petzinger J, Ehrhardt H, Hahn A, Cirak S.   +9 more
europepmc   +1 more source

Suspected congenital centronuclear myopathy in an Arabian-cross foal. [PDF]

J Vet Intern Med, 2014
Polle F, Andrews FM, Gillon T, Eades SC, McConnico RS, Strain GM, Valberg SJ, Guo LT, Shelton GD.   +8 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

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

Centronuclear myopathy: subgroup characterized by tissue mosaicism

Arquivos de Neuro-Psiquiatria, 1999
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