Results 91 to 100 of about 27,107 (181)

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  

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. [PDF]

Genes (Basel), 2023
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D.   +11 more
europepmc   +1 more source

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

, 1990
We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM).
Moser, H., Cole, G., Williams, H., Clarke, Angus John, Gerber, Annelies, Meier, C., Thomas, Nicholas Stuart Tudor, Roberts, K., Liechti-Gallati, S., Braga, S.   +9 more
core   +1 more source

Arrhythmias in patients with X-linked myotubular myopathy. [PDF]

Rev Neurol, 2023
Pons-Espinal M, Clotet-Caba J, Cesar-Díaz S, Yubero-Siles D.   +3 more
europepmc   +1 more source

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

, 1998
International audienceX-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative
Blondeau, François, Serge Vicaire, Tanner, Stephan M., Hu, Ling-Jia, Christophe Guiraud-Chaumeil, Liechti-Gallati, Sabina, Sabina Liechti-Gallati, Mandel, Jean-Louis, François Blondeau, Laporte, Jocelyn, Guiraud-Chaumeil, Christophe, Stephan M Tanner, Ling-Jia Hu, Vicaire, Sabrina, Jocelyn Laporte, Jean-Louis Mandel   +15 more
core   +1 more source

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. [PDF]

Acta Neuropathol, 2022
Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, Monis S, Alvi SA, Genetti CA, Payrastre B, Beggs AH, Bonnemann CG, Muntoni F, Wilson MD, Weksberg R, Viaud J, Dowling JJ.   +25 more
europepmc   +1 more source

Neuropathy in myotubular or centronuclear myopathy.

Arquivos de neuro-psiquiatria, 1975
A detailed electrophysiological study has been made of the extensor digitorum brevis, thenar, hypothenar and soleus muscles in one patient with myotubular or centronuclear myopathy. The main finding was a noticeable reduction in the population of active motor units in all the investigated muscles. The remainer units showed normal sizes.
R E, Sica, O P, Sanz
openaire   +1 more source

High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. [PDF]

Am J Hum Genet, 2023
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F.   +11 more
europepmc   +1 more source

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. [PDF]

Neurology, 2021
Reumers SFI, Braun F, Spillane JE, Spillane JE, Böhm J, Pennings M, Schouten M, van der Kooi AJ, Foley AR, Bönnemann CG, Kamsteeg EJ, Erasmus CE, Schara-Schmidt U, Jungbluth H, Voermans NC.   +14 more
europepmc   +1 more source

Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model. [PDF]

Proc Natl Acad Sci U S A, 2022
Samsó P, Koch PA, Posor Y, Lo WT, Belabed H, Nazare M, Laporte J, Haucke V.   +7 more
europepmc   +1 more source