Results 101 to 110 of about 2,881 (205)

Neuropatia na miopatia miotubular ou centronuclear Neuropathy in myotubular or centronuclear myopathy

Arquivos de Neuro-Psiquiatria, 1975
Un estudio electrofisiológico detallado fué hecho en los músculos extensor corto de los dedos, de la eminencia tenar, de la eminencia hipotenar y soleo en un paciente con el diagnóstico de miopatía miotubular o centronuclear.
Roberto E. P. Sica, Olga P. Sanz
doaj  

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

JCI Insight, 2022
Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy.
Qifei Li, Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Yuanfan Zhang, Jocelyn Laporte, Mark A. Perrella, Xiaoli Liu, Pankaj B. Agrawal   +9 more
doaj   +1 more source

Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure [PDF]

, 2015
We have reported previously that a missense mutation in the mitochondrial fission gene Dynamin-related protein 1 (Drp1) underlies the Python mouse model of monogenic dilated cardiomyopathy. The aim of this study was to investigate the consequences of the
Ashrafian, H, Bao, L, Bellahcene, M, Boyle, J, Cahill, TJ, Cereghetti, G, Czibik, G, Dear, TN, Ferguson, DJP, Ghaffari, S, Harper, AR, Hettiarachchi, NT, Hill, RB, Kelly, M, Kennedy, NW, Lao, C, Leo, V, Mayer, A, Peers, C, Poulton, J, Scorrano, L, Simmons, A, Steeples, V, Stockenhuber, A, Watkins, H, Yavari, A   +25 more
core   +1 more source

[Centronuclear myopathy].

Neurologia (Barcelona, Spain), 1993
A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy.
M, Olivé, I, Ferrer, S, Jauma, J, Montero, J A, Martínez-Matos   +4 more
openaire   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients [PDF]

, 2018
Core myopathies are a group of childhood muscle disorders caused by mutations of the ryanodine receptor (RyR1), the Ca2+ release channel of the sarcoplasmic reticulum.
Bentham, RB, Duchen, MR, Kotiadis, VN, Menegollo, M, Molgó, J, Muntoni, F, Pegoraro, E, Pignataro, V, Sharpe, JA, Suman, M, Szabadkai, G   +10 more
core   +1 more source

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy. [PDF]

Brain, 2023
Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J.   +3 more
europepmc   +1 more source

Dynamin-2 function and dysfunction along the secretory pathway

Frontiers in Endocrinology, 2013
Dynamin-2 is a ubiquitously expressed mechano-GTPase involved in different stages of the secretory pathway. Its most well-known function relates to the scission of nascent vesicles from the plasma membrane during endocytosis; however, it also ...
Arlek M González-Jamett, Fanny eMomboisse, Valentina eHaro-Acuña, Jorge Alfredo Bevilacqua, Pablo eCaviedes, Ana María Cárdenas   +5 more
doaj   +1 more source

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy. [PDF]

Neurol Genet, 2022
Hayes LH, Perdomini M, Aykanat A, Genetti CA, Paterson HL, Cowling BS, Freitag C, Beggs AH.   +7 more
europepmc   +1 more source

N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

EMBO Molecular Medicine, 2014
Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads.
Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes   +14 more
doaj   +1 more source