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A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
NEUROMUSCULAR DISORDERS
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
NEUROMUSCULAR DISORDERS
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach
NEUROMUSCULAR DISORDERS
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
NEUROMUSCULAR DISORDERS
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers
NEUROMUSCULAR DISORDERS
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A
MECHANISMS OF DEVELOPMENT
Mutations in the caveolin-3 gene: When are they pathogenic?
AMERICAN JOURNAL OF MEDICAL GENETICS
Isolated loss of gamma-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies
MUSCLE & NERVE
Muscle training in muscular dystrophies
ACTA PHYSIOLOGICA SCANDINAVICA
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy
NEUROLOGICAL SCIENCES
Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer
MOLECULAR THERAPY
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
GENETICS IN MEDICINE
Mutations in the LMNA gene encoding lamin A/C
HUMAN MUTATION
Private beta- and gamma-sarcoglycan gene mutations: Evidence of a founder effect in northern Italy
HUMAN MUTATION
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
GENE THERAPY
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
NEUROMUSCULAR DISORDERS
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F
NEUROMUSCULAR DISORDERS
Calpain3 expression during human cardiogenesis
NEUROMUSCULAR DISORDERS
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdlemuscular dystrophy
JOURNAL OF NEUROLOGY
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
AMERICAN JOURNAL OF MEDICAL GENETICS
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations
MUSCLE & NERVE
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
NEUROLOGY
Vaginal delivery in a woman with limb-girdle muscular dystrophy - A case report
JOURNAL OF REPRODUCTIVE MEDICINE
A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families
JOURNAL OF MEDICAL GENETICS
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations
JOURNAL OF MEDICAL GENETICS
Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
JOURNAL OF CELL BIOLOGY
Conservation of components of the dystrophin complex in Drosophila
FEBS LETTERS
C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population
HUMAN MUTATION
rAAV vector-mediated sarcoglycan gene transfer in a hamster model for limbgirdle muscular dystrophy
GENE THERAPY
Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy
NEUROMUSCULAR DISORDERS
Myopathy with trabecular muscle fibers
NEUROMUSCULAR DISORDERS
Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans
ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES
Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy
JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
New advances in the understanding of muscular dystrophies: an up-to-date diagnostic plan
SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT
Diagnostic approach to muscular dystrophies - recent developments and casereports
NERVENARZT
Mutations of calpain 3 gene in patients with sporadic limb-girdle musculardystrophy in Japan
JOURNAL OF THE NEUROLOGICAL SCIENCES
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture
ACTA NEUROLOGICA SCANDINAVICA
THE HEART IN LIMB-GIRDLE MUSCULAR-DYSTROPHY
HEART
LAMININ ALPHA-2-CHAIN GENE-MUTATIONS IN 2 SIBLINGS PRESENTING WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY
Neuromuscular disorders
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
EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY
Neuromuscular disorders
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Neuromuscular disorders
EVOKED ISOMETRIC MUSCLE CONTRACTIONS IN MYOPATHIES - ANALYSIS OF PATHOPHYSIOLOGICAL PROPERTIES BY DIFFERENT STIMULUS PATTERNS
ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY
Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C
PRENATAL DIAGNOSIS
THE GENOMIC STRUCTURE OF DCTN1, A CANDIDATE GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2B)
Biochimica et biophysica acta, N. Gene structure and expression
PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS
Muscle & nerve
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Muscle & nerve
CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A WITH NEW CALPAIN-3 GENE-MUTATIONS IN 7 PATIENTS FROM3 JAPANESE FAMILIES
Muscle & nerve
PRIMARY ALPHA-SARCOGLYCAN DEFICIENCY RESPONSIVE TO IMMUNOSUPPRESSION OVER 3 YEARS
Muscle & nerve
EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Journal of Medical Genetics
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Brain (Print)
ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2
Brain
SKELETAL MUSCLE-SPECIFIC CALPAIN, P94 - STRUCTURE AND PHYSIOLOGICAL-FUNCTION
Biochemical pharmacology
SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS
Acta Neuropathologica
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the samepedigree
ACTA NEUROLOGICA SCANDINAVICA
EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES
Human heredity
STRUCTURE AND REACTION-MECHANISM OF L-ARGININE-GLYCINE AMIDINOTRANSFERASE
Biological chemistry
EARLY-ONSET AUTOSOMAL-DOMINANT MYOPATHY WITH RIGIDITY OF THE SPINE - A POSSIBLE ROLE FOR LAMININ BETA-1
Neuromuscular disorders
CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD
Neuropediatrics
LIMB-GIRDLE MUSCULAR-DYSTROPHY - A PROSPECTIVE FOLLOW-UP-STUDY OF FUNCTIONAL IMPAIRMENT
Muscle & nerve
CHILDHOOD-ONSET AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CARDIAC CONDUCTION BLOCK
Muscle & nerve
ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A)
Journal of the neurological sciences
GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS
Journal of Medical Genetics
CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS
Acta Neuropathologica
CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES
Neuromuscular disorders
IDENTIFICATION OF MUSCLE-SPECIFIC CALPAIN AND BETA-SARCOGLYCAN GENES IN PROGRESSIVE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES
Neuromuscular disorders
ABNORMALITIES IN ALPHA-SARCOGLYCAN, BETA-SARCOGLYCAN AND GAMMA-SARCOGLYCAN IN PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY
Neuromuscular disorders
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C - CLINICAL ASPECTS
Neuromuscular disorders
ANESTHETIC MANAGEMENT OF A PARTURIENT WITH SEVERE MUSCULAR-DYSTROPHY,LUMBAR LORDOSIS AND A DIFFICULT AIRWAY
Canadian journal of anaesthesia
LIMB-GIRDLE MUSCULAR-DYSTROPHY - A RADIOLOGIC AND MANOMETRIC STUDY OFTHE PHARYNX AND ESOPHAGUS
Dysphagia
NEUROSENSORY HEARING-LOSS IN SECONDARY ADHALINOPATHY
Neuropediatrics
MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES
Journal of Medical Genetics
ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12
FEBS letters
THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS
Brain
JUVENILE LIMB-GIRDLE MUSCULAR-DYSTROPHY CLINICAL, HISTOPATHOLOGICAL AND GENETIC DATA FROM A SMALL COMMUNITY LIVING IN THE REUNION-ISLAND
Brain
LIMB-GIRDLE MUSCULAR-DYSTROPHY - A FOLLOW-UP-STUDY OF 79 PATIENTS
Acta neurologica Scandinavica
LATE-ONSET MUSCULAR-DYSTROPHY PROXIMAL MYOPATHY AND RECURRENT FALLS IN THE ELDERLY
Clinical rheumatology
IS DYSTROPHIN ALWAYS ALTERED IN BECKER MUSCULAR-DYSTROPHY PATIENTS
Journal of the neurological sciences
LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL AND PATHOLOGICAL REEVALUATION
Journal of the neurological sciences
BETHLEM MYOPATHY - EARLY-ONSET BENIGN AUTOSOMAL-DOMINANT MYOPATHY WITH CONTRACTURES - DESCRIPTION OF 2 NEW FAMILIES
Neuromuscular disorders
A DANISH FAMILY WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Neuromuscular disorders
MYOTONIC-DYSTROPHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY IN ONE FAMILY
The Clinical investigator
ABNORMAL DYSTROPHIN EXPRESSION IN PATIENTS WITH LIMB-GIRDLE SYNDROMES
Journal of neurology
LIMB-GIRDLE MUSCULAR-DYSTROPHY - WEAKNESS AND DISEASE DURATION AS PREDICTORS OF FUNCTIONAL IMPAIRMENT
Muscle & nerve
LIMB-GIRDLE MUSCULAR-DYSTROPHY - DESCRIPTION OF A PHENOTYPE
Muscle & nerve
DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (ADHALIN)IN SEVERE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN CHILDREN NATIVEFROM EUROPEAN COUNTRIES
Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
LIMB-GIRDLE MUSCULAR-DYSTROPHY IS CLOSELY LINKED TO THE FIBRILLIN LOCUS ON CHROMOSOME-15
Connective tissue research
LIMB-GIRDLE MUSCULAR-DYSTROPHY - A NONINVASIVE CARDIAC EVALUATION
Cardiology