Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease

(2014) M.I. Nilsson et al.   GENE

Oxidative stress and Nrf2 signaling in McArdle disease

(2013) Yu Kitaoka et al.   MOLECULAR GENETICS AND METABOLISM

Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

(2013) M. Fanin et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

(2012) I. Kramerova et al.   HUMAN MOLECULAR GENETICS

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease

(2012) Mats I. Nilsson et al.   MOLECULAR GENETICS AND METABOLISM

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

(2012) Mats I. Nilsson et al.   MUSCLE & NERVE

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective

(2012) Arunkanth Ankala et al.   MUSCLE & NERVE

Non-Proteolytic Functions of Calpain-3 in Sarcoplasmic Reticulum in Skeletal Muscles

(2011) Koichi Ojima et al.   JOURNAL OF MOLECULAR BIOLOGY

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

(2011) Y. Wu et al.   MOLECULAR GENETICS AND METABOLISM

Skeletal Muscle-specific Calpain Is an Intracellular Na+-dependent Protease

(2010) Yasuko Ono et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy

(2010) Koichi Ojima et al.   JOURNAL OF CLINICAL INVESTIGATION

Aberrant Mitochondrial Homeostasis in the Skeletal Muscle of Sedentary Older Adults

(2010) Adeel Safdar et al.   PLoS One

Skeletal Muscle NADPH Oxidase Is Increased and Triggers Stretch-Induced Damage in the mdx Mouse

(2010) Nicholas P. Whitehead et al.   PLoS One

Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle

(2009) I. Kramerova et al.   HUMAN MOLECULAR GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

(2008) Marina Fanin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle

(2008) I. Kramerova et al.   HUMAN MOLECULAR GENETICS

Energetic signalling in the control of mitochondrial F1F0 ATP synthase activity in health and disease

(2008) Gary J. Grover et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

(2007) Hanna K. Kolski et al.   NEUROPATHOLOGY