Results 71 to 80 of about 207 (93)

The 21-base pair deletion mutant Calpain3 does not inhibit wild-type Calpain3 activity. [PDF]

Genes Dis
Maitra S, Oh S, Choe YJ, Kim J, Kim NC.
europepmc   +1 more source

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. [PDF]

Neurogenetics
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A.   +9 more
europepmc   +1 more source

Human calpain-3 and its structural plasticity: Dissociation of a homohexamer into dimers on binding titin. [PDF]

J Biol Chem
Ye Q, Henrickson A, Demeler B, Balasco Serrão VH, Davies PL.   +4 more
europepmc   +1 more source

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. [PDF]

Turk J Med Sci
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M.   +6 more
europepmc   +1 more source

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. [PDF]

Intern Med
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.   +9 more
europepmc   +1 more source

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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Journal of Neurology, 2019
Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns ...
John Vissing, Edoardo Malfatti, Andrea Barp   +2 more
exaly   +7 more sources

Capn3b-deficient zebrafish model reveals a key role of autoimmune response in LGMDR1

Journal of Genetics and Genomics
Mutations in calcium-dependent papain-like protease CALPAIN3 (CAPN3) cause Limb-Girdle Muscular Dystrophy Recessive Type 1 (LGMDR1), the most common limb-girdle muscular dystrophy in humans. In addition to progressive muscle weakness, persistent inflammatory infiltration is also a feature of LGMDR1.
Jinrong Peng, Weihuan Fang, Delai Huang   +2 more
exaly   +3 more sources

P.159 Correlation of clinical outcome parameters in patients with LGMDR1 with quantitative muscle MRI of the leg muscles

Neuromuscular Disorders, 2022
M Vorgerd
exaly   +2 more sources

VP291 The clinical, imaging and genetic characteristics in a large cohort of LGMDR1 patients from an Egyptian referral center

Neuromuscular Disorders, 2023
Ichizo Nishino, R El Sherif
exaly   +2 more sources

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

Journal of Neuromuscular Diseases, 2020
Background: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet ...
Pankaj, Pathak, Mehar Chand, Sharma, Pankaj, Jha, Chitra, Sarkar, Mohammed, Faruq, Prerana, Jha, Vaishali, Suri, Rohit, Bhatia, Sumit, Singh, Sheffali, Gulati, Mohammad, Husain   +10 more
openaire   +2 more sources