Results 111 to 120 of about 1,979 (203)

Duchenne muscular dystrophy: From diagnosis to therapy [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of
Falzarano, M. S., Ferlini, A., Passarelli, C., Scotton, C.   +3 more
core   +2 more sources

Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice

Journal of Lipid Research, 2019
Defects in the gene coding for dysferlin, a membrane-associated protein, affect many tissues, including skeletal muscles, with a resultant myopathy called dysferlinopathy.
Vanessa R. Haynes, Stacey N. Keenan, Jackie Bayliss, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +1 more source

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

Molecular Genetics & Genomic Medicine, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +1 more source

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy [PDF]

Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses.
Alfano L. N., Bello L., Borland H., Canal A., DeWolf B., Dressman H. G., Duong T., Hilsden H., Holsten S., Human A., James M. K., Lowes L. P., Maron E., Mayhew A. G., Moore U., Pedrosa-Hernandez I., Praxedes N. S. -A., Rose K., Rufibach L. E., Sakamoto C., Siener C., Straub V., Thiele S.   +22 more
core   +1 more source

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study [PDF]

, 2018
et al,, Harms, Matthew, Moore, Ursula R, Pestronk, Alan   +3 more
core   +8 more sources

Sporadic inclusion body myositis: an unsolved mystery [PDF]

, 2009
Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M, Holton, J, Machado, P, Miller, A   +3 more
core  

The Clinical Outcome Study for dysferlinopathy [PDF]

, 2016
Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this ...
Bettinson, Karen, Bladen, Catherine, Cnaan, Avital, Harris, Elizabeth, James, Meredith, Mayhew, Anna, The Jain Cos Consortium   +6 more
core   +1 more source

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan [PDF]

, 2017
Artur A. Isaev, Gimat D. Dalgatov, Ivan A. Yakovlev, Mikhail O. Mavlikeev, Olga N. Chernova, Patimat G. Akhmedova, Raisat M. Magomedova, Roman V. Deev, Sergei N. Bardakov, Valerii P. Fedotov, Zoya R. Umakhanova   +10 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Diagnosis of Dysferlinopathies [PDF]

Open Access Journal of Neurology & Neurosurgery, 2019
openaire   +1 more source