Results 161 to 170 of about 12,800 (285)

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

, 2018
Per Harald Jonson, Johanna Palmio, Mridul Johari, S. Penttilä, Anni Evilä, Isabelle Nelson, Gisèle Bonne, Nicolas Wiart, Vincent Meyer, A. Boland, Jean F. Deleuze, C. Masson, Tanya Stojkovic, Françoise Chapon, Norma B. Romero, Gaglianò Maria Sole, Xavier Ferrer, Ana Ferreiro, Peter Hackman, Isabelle Richard, Bjarne Udd   +20 more
openalex   +2 more sources

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy [PDF]

, 2015
Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh B. Waddell, Simran Kaur, Con Yiannikas, Kathryn N. North, Nigel F. Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd   +20 more
openalex   +1 more source

A novel TTN variant in a patient with distal myopathy of lower limbs and dilated cardiomyopathy

, 2021
A. López-Bravo, J.C. Roche-Bueno, Alejandro Romera-López, P. Larrodé-Pellicer   +3 more
openalex   +1 more source

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation [PDF]

Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, J. Sarparanta, Johanna Palmio, Giorgio Tasca, Mario Sabatelli, Cédric Yvorel, Inès Harzallah, Renaud Touraine, Lynn Pais, Christina Austin‐Tse, Vijay Ganesh, Melanie O’Leary, Heidi L. Rehm, Michael K. Hehir, S. H. Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +19 more
openalex   +1 more source

Autosomal recessive distal myopathy. [PDF]

, 1988
H Isaacs, M Badenhorst, Toni Whistler
openalex   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source

Nemaline Myopathy Presenting as Adult-onset Distal Myopathy [PDF]

, 2016
Kee Hong Park, Sung-Yeon Sohn, Je-Young Shin, Jun‐Soon Kim, Sung‐Hye Park, Ji‐Sun Kim, Jung‐Joon Sung   +6 more
openalex   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery [PDF]

, 2019
De Paepe, Boel
core   +1 more source