Results 111 to 120 of about 1,552 (162)

Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner. [PDF]

Cell Death Dis
Gloriani M, Cheli B, D'Ercole C, Ruggieri V, Cosentino M, Serrat Pineda M, Lozanoska-Ochser B, Grassi F, Bouché M, Madaro L, Sánchez Riera C.   +10 more
europepmc   +1 more source

Case Report: Abnormally low hemoglobin A1c in a diabetic patient with <i>SLC4A1</i> gene mutation. [PDF]

Front Endocrinol (Lausanne)
Ye L, Ren Q, Ba T, Wu J, Han X, Ji L.
europepmc   +1 more source

Arrhythmogenic Cardiomyopathy Diagnosed Late in a Master Recreational Endurance Athlete. [PDF]

JACC Case Rep
Gardikioti V, Antonopoulos A, Kasiakogias A, Miliou A, Tsampras T, Dimitriadis K, Kordalis A, Lazaros G, Tsioufis K, Vlachopoulos C.   +9 more
europepmc   +1 more source

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene. [PDF]

Pediatr Dermatol
Sánchez-Espino LF, Ivars M, Vicente-López A, Prat-Torres C, Armstrong-Morón J, Baselga E.   +5 more
europepmc   +1 more source

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies. [PDF]

Genes (Basel)
Marchetti GB, Cappuccini F, Goisis L, Verduci E, Natacci F, Gervasini C, Massa V, Milani D, Iascone M, Pezzoli L.   +9 more
europepmc   +1 more source

Mutational spectrum of sarcoglycanopathies in Spain

, 2011
Castro Gago, Manuel, Navarro Fernández-Balbuena, Carmen   +1 more
openaire   +1 more source

Emerging therapeutic strategies for sarcoglycanopathy

Expert Opinion on Orphan Drugs, 2017
Introduction: Sarcoglycanopathy is the name shared by four rare autosomal recessive muscular dystrophies (LGMD2 C-F) that are usually characterized by early onset and rapid progression and an accompanying loss of independent walking since adolescence ...
Dorianna Sandonà, Marcello Carotti
exaly   +3 more sources

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Brain, 2020
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes.
Cristina Dominguez-Gonzalez, David Gómez-Andrés, John Vissing   +2 more
exaly   +8 more sources