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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
S Ducreux et al.
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SEPN1:: Associated with congenital fiber-type disproportion and insulin resistance
NF Clarke et al.
ANNALS OF NEUROLOGY (2006)
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
H Jungbluth et al.
NEUROLOGY (2005)
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun et al.
NATURE GENETICS (2005)
Long-term AICAR administration and exercise prevents diabetes in ZDF rats
R Pold et al.
DIABETES (2005)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner et al.
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Comparing skeletal and cardiac calsequestrin structures and their calcium binding - A proposed mechanism for coupled calcium binding and protein polymerization
HJ Park et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Magnetic resonance imaging of muscle in nemaline myopathy
H Jungbluth et al.
NEUROMUSCULAR DISORDERS (2004)
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
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NEUROMUSCULAR DISORDERS (2004)
Conformational activation of Ca2+ entry by depolarization of skeletal myotubes
G Cherednichenko et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Actin mutations are one cause of congenital fibre type disproportion
NG Laing et al.
ANNALS OF NEUROLOGY (2004)
Pilot trial of salbutamol in central core and multi-minicore diseases
S Messina et al.
NEUROPEDIATRICS (2004)
NMR solution structure and topological orientation of monomeric phospholamban in dodecylphosphocholine micelles
J Zamoon et al.
BIOPHYSICAL JOURNAL (2003)
Phospholamban: A crucial regulator of cardiac contractility
DH MacLennan et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
N Monnier et al.
HUMAN MOLECULAR GENETICS (2003)
Sarcolipin regulates sarco(endo)plasmic reticulurn Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia
NB Romero et al.
BRAIN (2003)
Presence of two different genetic traits in malignant hyperthermia families - Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility
N Monnier et al.
ANESTHESIOLOGY (2002)
Nebulin mutations in autosomal recessive nemaline myopathy: an update
K Pelin et al.
NEUROMUSCULAR DISORDERS (2002)
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies
A Ferreiro et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
H Jungbluth et al.
NEUROLOGY (2002)
Mutations in the β-tropomyosin (TPM2) gene -: a rare cause of nemaline myopathy
K Donner et al.
NEUROMUSCULAR DISORDERS (2002)
Characterization of the ATP-binding domain of the sarco(endo)plasmic reticulum Ca2+-ATPase:: Probing nucleotide binding by multidimensional NMR
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BIOCHEMISTRY (2002)
Nemaline myopathy: A clinical study of 143 cases
MM Ryan et al.
ANNALS OF NEUROLOGY (2001)
Depletion of Ca2+ in the sarcoplasmic reticulum stimulates Ca2+ entry into mouse skeletal muscle fibres
N Kurebayashi et al.
JOURNAL OF PHYSIOLOGY-LONDON (2001)
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
H Jungbluth et al.
NEUROMUSCULAR DISORDERS (2001)
Autosomal dominant myopathy:: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene
T Martinsson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
JJ Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution
C Toyoshima et al.
NATURE (2000)
Regulation of contraction in striated muscle
AM Gordon et al.
PHYSIOLOGICAL REVIEWS (2000)
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