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The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more
CURRENT OPINION IN NEUROLOGY
Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: Triple immunogold labeling electron microscopy
MICROSCOPY RESEARCH AND TECHNIQUE
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy
GENETIC COUNSELING
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
NEUROMUSCULAR DISORDERS
Stretch-activated cation channels in skeletal muscle myotubes from sarcoglycan-deficient hamsters
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
Stretch-induced cell damage in sarcoglycan-deficient myotubes
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
NATURE GENETICS
Sarcoglycans in muscular dystrophy
MICROSCOPY RESEARCH AND TECHNIQUE
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
GENE THERAPY
A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system
HUMAN MOLECULAR GENETICS
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions
HUMAN MOLECULAR GENETICS
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion
NEUROMUSCULAR DISORDERS
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdlemuscular dystrophy
JOURNAL OF NEUROLOGY
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
MUSCLE & NERVE
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations
MUSCLE & NERVE
Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle
JOURNAL OF NEUROCHEMISTRY
A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families
JOURNAL OF MEDICAL GENETICS
Differential requirement for individual sarcoglycans and dystrophin in theassembly and function of the dystrophin-glycoprotein complex
JOURNAL OF CELL SCIENCE
Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology
JOURNAL OF CELL BIOLOGY
Assembly of the dystrophin-associated protein complex does not require thedystrophin COOH-terminal domain
JOURNAL OF CELL BIOLOGY
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
JOURNAL OF CELL BIOLOGY
gamma 1-and gamma 2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells
JOURNAL OF BIOLOGICAL CHEMISTRY
Loss of dystrophin and some dystrophin-associated proteins with concomitant signs of apoptosis in rat leg muscle overworked in extension
ACTA NEUROPATHOLOGICA
Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice
HUMAN MOLECULAR GENETICS
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
HUMAN MOLECULAR GENETICS
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
NEUROMUSCULAR DISORDERS
Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients
INTERNAL MEDICINE
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosomeregion 13q11
GENOMICS
Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans
ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
Muscle diseases - New developments
AKTUELLE NEUROLOGIE
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
AMERICAN JOURNAL OF MEDICAL GENETICS
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
MUSCLE & NERVE
Sarcoglycan complex: A muscular supporter of dystroglycan-dystrophin interplay?
CELLULAR AND MOLECULAR BIOLOGY
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle:A novel mechanism for cardiomyopathy and muscular dystrophy
CELL
Muscle degeneration without mechanical injury in sarcoglycan deficiency
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Mutations of calpain 3 gene in patients with sporadic limb-girdle musculardystrophy in Japan
JOURNAL OF THE NEUROLOGICAL SCIENCES
Counting muscular dystrophies in the post-molecular census
JOURNAL OF THE NEUROLOGICAL SCIENCES
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
JOURNAL OF THE NEUROLOGICAL SCIENCES
Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred
JOURNAL OF MEDICAL GENETICS
alpha-dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability
JOURNAL OF CELL BIOLOGY
Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex
JOURNAL OF CELL BIOLOGY
Sarcoglycan isoforms in skeletal muscle
JOURNAL OF BIOLOGICAL CHEMISTRY
Making sense of the limb-girdle muscular dystrophies
BRAIN
Muscular dystrophy - Identification and use of genes for diagnostics and therapeutics
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Ultrastructural localization of alpha-, beta- and gamma-sarcoglycan and their mutual relation, and their relation to dystrophin, beta-dystroglycan and beta-spectrin in normal skeletal myofiber
ACTA NEUROPATHOLOGICA
THE SARCOGLYCAN COMPLEX IN LIMB-GIRDLE MUSCULAR-DYSTROPHY
Current opinion in neurology
FUNCTIONAL RESCUE OF THE SARCOGLYCAN COMPLEX IN THE BIO-14.6 HAMSTER USING DELTA-SARCOGLYCAN GENE-TRANSFER
MOLECULAR CELL
A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B
Nature genetics
A NOVEL GAMMA-SARCOGLYCAN MUTATION CAUSING CHILDHOOD-ONSET, SLOWLY PROGRESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Neuromuscular disorders
LGMD 2E IN TUNISIA IS CAUSED BY A HOMOZYGOUS MISSENSE MUTATION IN BETA-SARCOGLYCAN EXON-3
Neuromuscular disorders
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Neuromuscular disorders
Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C
PRENATAL DIAGNOSIS
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Muscle & nerve
INVITED REVIEW - FROM DYSTROPHINOPATHY TO SARCOGLYCANOPATHY - EVOLUTION OF A CONCEPT OF MUSCULAR-DYSTROPHY
Muscle & nerve
A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES
Journal of Medical Genetics
Molecular organization of sarcoglycan complex in mouse myotubes in culture
JOURNAL OF CELL BIOLOGY
Assembly of the sarcoglycan complex - Insights for muscular dystrophy
JOURNAL OF BIOLOGICAL CHEMISTRY
MOLECULAR PATHOGENESIS OF MUSCLE DEGENERATION IN THE DELTA-SARCOGLYCAN-DEFICIENT HAMSTER
The American journal of pathology
CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A
The American journal of pathology
SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS
Acta Neuropathologica
DIFFERENT MANNERS OF SARCOGLYCAN EXPRESSION IN GENETICALLY PROVEN ALPHA-SARCOGLYCAN DEFICIENCY AND GAMMA-SARCOGLYCAN DEFICIENCY
Acta Neuropathologica
CORRELATIVE MR-IMAGING AND P-31-MR SPECTROSCOPY STUDY IN SARCOGLYCAN DEFICIENT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Neuromuscular disorders
DYSTROPHIN IN THE RETINA
Progress in neurobiology
GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS
Journal of Medical Genetics
EPSILON-SARCOGLYCAN, A BROADLY EXPRESSED HOMOLOG OF THE GENE MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY 2D
The Journal of biological chemistry
AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY AND MUTATIONS OF THE SARCOGLYCAN COMPLEX
Neuromuscular disorders
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C - CLINICAL ASPECTS
Neuromuscular disorders
ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12
FEBS letters