Results 111 to 120 of about 16,504 (255)

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern [PDF]

, 2014
Ana Cotta, Júlia Filardi Paim, Antonio Lopes da-Cunha-Júnior, Rafael Xavier Neto, Simone Vilela Nunes, Monica M. Navarro, Jaquelin Valicek, Elmano Carvalho, Lydia U. Yamamoto, Camila de Almeida, Shelida Vasconcelos Braz, Reinaldo Issao Takata, Mariz Vainzof   +12 more
openalex   +1 more source

Combined spinal-epidural anesthesia for abdominoplasty and liposuction in Limb-Girdle Muscular Dystrophy: case report

, 2021
Plínio da Cunha Leal, Wildney Leite Lima, Eduardo José Silva Gomes de Oliveira, Caio Márcio Barros de Oliveira, Lyvia Maria Rodrigues de Sousa Gomes, Elizabeth Teixeira Noguera Servín, Ed Carlos Rey Moura   +6 more
openalex   +1 more source

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D [PDF]

, 2021
James R. Mickelson, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Amanda Ciavarella, Lydia E Hambrook, K. Brenner, Sarah E. Helmond, Stanley L. Marks, G. Diane Shelton   +10 more
openalex   +1 more source

Decision letter for "Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18"

, 2021

openalex   +1 more source

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant [PDF]

, 2008
Emma Clement, Caroline Godfrey, Jenny Tan, Martin Brockington, Silvia Torelli, Lucy Feng, S. Brown, C. Jimenez‐Mallebrera, Caroline A. Sewry, Cheryl Longman, R. Mein, Stephen Abbs, Jiri Vajsar, Harry Schachter, Francesco Muntoni   +14 more
openalex   +1 more source

A Patient of Limb-girdle Muscular Dystrophy Type 1B Presenting with Heart Failure and Cardiac Conduction Defects: A Case Report

, 2022
Abdul Wadud Chowdhury, Nasir Uddin, Md. Khalequzzaman, M. Z. I. Sarkar, Hashmi Sina, Abu Taher Md Mahfuzul Haque, Azizul Haque   +6 more
openalex   +2 more sources

Limb girdle muscular dystrophies

Česká a slovenská neurologie a neurochirurgie, 2022
Lívie Mensová, Daniel Baumgartner, Veronika Potočková, Radim Mazanec   +3 more
openaire   +1 more source

Two cases with dysferlinopathy

Türk Nöroloji Dergisi, 2011
Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13).
Gaye Eryaşar, Yaprak Seçil, Yeşim Beckmann, Ayşen İnceoğlu Kendir, A. Gülden Diniz, Mustafa Başoğlu   +5 more
doaj   +2 more sources

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy [PDF]

, 2022
Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer M. Mohr, Matthias Vorgerd, Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann‐Kathrin Zaum, Simone Rost   +11 more
openalex   +1 more source

Chronic respiratory failure in limb-girdle muscular dystrophy: Successful long-term therapy with nasal bilevel positive airway pressure [PDF]

, 1994
Patricia L. Robertson, Dietrich W. Roloff   +1 more
openalex   +1 more source