Results 81 to 90 of about 482,816 (172)

Exploring Awareness of and Self‐Reported Adherence to Neuromuscular Clinical Practice Guidelines Among Australian and New Zealand Health Professionals: A Cross‐Sectional Survey Study

Journal of Evaluation in Clinical Practice, Volume 32, Issue 6, September 2026.
ABSTRACT Background and Purpose There is limited evidence describing awareness and adherence to clinical practice guidelines for neuromuscular disorders. This study aimed to assess awareness of and self‐reported adherence to clinical practice guidelines for neuromuscular disorders among Australian and New Zealand health professionals.
Rachel A. Kennedy, Marlena Klaic, Gabrielle Donlevy, Kate Carroll, Paula Bray, Eppie M. Yiu, Zoe E. Davidson   +6 more
wiley   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

Functional protein networks unifying limb girdle muscular dystrophy [PDF]

, 2011
Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes. These genes are often widely expressed and encode proteins with highly differing functions.
Morrée, A. de
core  

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]

, 2016
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Pane, M, Ricotti, V, Manzur, AY, on behalf of UK NorthStar Clinical Network, ., Muntoni, F, Ridout, DA, Mercuri, E, Mayhew, A   +8 more
core  

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source

Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization

Arquivos de Neuro-Psiquiatria, 2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj   +1 more source

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

, 2004
Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure.
Voit, T, Hilton-Jones, David, Eagle, M, Straub, V, Hilton-Jones, D, Bourke, J, Frosk, P, Muntoni, F, Wrogemann, K, Shirodaria, C, Bushby, K, Poppe, M, Greenberg, C   +12 more
core   +1 more source

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene [PDF]

, 2017
How to Cite This Article: Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol. Summer 2017; 11(3):57-60.
HASHEMI-GORJI, Feyzollah, FARDAEI, Majid, GHAFOURI-FARD, Soudeh, MIRYOUNESI, Mohammad   +3 more
core   +1 more source