Related references
Note: Only part of the references are listed.Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
M. Fanin et al.
JOURNAL OF MEDICAL GENETICS (2007)
Quantitative analysis of CAPN3 transcripts in LGMD2A patients:: Involvement of nonsense-mediated mRNA decay
Kristyna Stehlikova et al.
NEUROMUSCULAR DISORDERS (2007)
Protein, and mRNABased phenotype-genotype correlations in DMD/DMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
Nathalie Deburgrave et al.
HUMAN MUTATION (2007)
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 21 in Denmark
ML Sveen et al.
ANNALS OF NEUROLOGY (2006)
Calpain-3 mutations in Turkey
B Balci et al.
EUROPEAN JOURNAL OF PEDIATRICS (2006)
Screening of the CAPN3 gene in patients with possible LGMD2A
M Krahn et al.
CLINICAL GENETICS (2006)
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
M Hermanová et al.
MUSCLE & NERVE (2006)
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
A Starling et al.
NEUROLOGY (2005)
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
G Piluso et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mechanisms of disease: Calpains and disease
M Zatz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
M Schwartz et al.
NEUROLOGY (2005)
Novel mutations in the calpain 3 gene in Germany
A Todorova et al.
CLINICAL GENETICS (2005)
LGMD2A:: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
A Sáenz et al.
BRAIN (2005)
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
M Fanin et al.
NEUROMUSCULAR DISORDERS (2005)
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
LE Maquat
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
T Chrobáková et al.
NEUROMUSCULAR DISORDERS (2004)
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
M Fanin et al.
HUMAN MUTATION (2004)
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
M Fanin et al.
AMERICAN JOURNAL OF PATHOLOGY (2003)
Clinical variability in calpainopathy: What makes the difference?
F de Paula et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach
C Pollitt et al.
NEUROMUSCULAR DISORDERS (2001)
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
M Zatz et al.
CURRENT OPINION IN NEUROLOGY (2000)
Share Paper
