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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Beth L. Thurberg et al.
LABORATORY INVESTIGATION (2006)
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
Valerie Tosch et al.
HUMAN MOLECULAR GENETICS (2006)
Phosphoinositides in cell regulation and membrane dynamics
Gilbert Di Paolo et al.
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Skeletal muscle repair in a mouse model of nemaline myopathy
Despina Sanoudou et al.
HUMAN MOLECULAR GENETICS (2006)
Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo
Christian C. Witt et al.
EMBO JOURNAL (2006)
Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle
Marie-Louise Bang et al.
JOURNAL OF CELL BIOLOGY (2006)
When contractile proteins go bad: the sarcomere and skeletal muscle disease
NG Laing et al.
BIOESSAYS (2005)
The kinase domain of titin controls muscle gene expression and protein turnover
S Lange et al.
SCIENCE (2005)
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)
H Tajsharghi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
An alpha-Tropomyosin mutation alters dimer preference in nemaline myopathy
MA Corbett et al.
ANNALS OF NEUROLOGY (2005)
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy
S Marston et al.
NEUROMUSCULAR DISORDERS (2004)
Brief report -: Myostatin mutation associated with gross muscle hypertrophy in a child
M Schuelke et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism
JE Joya et al.
HUMAN MOLECULAR GENETICS (2004)
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy
S Bohlega et al.
NEUROLOGY (2004)
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern
N Petit et al.
HUMAN MOLECULAR GENETICS (2003)
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
D Sanoudou et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
SS Sung et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mitochondrial dysfunction in myofibrillar myopathy
J Reimann et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2003)
H2O2 activates ryanodine receptor but has little effect on recovery of releasable Ca2+ content after fatigue
T Oba et al.
JOURNAL OF APPLIED PHYSIOLOGY (2002)
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
A Buj-Bello et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutations in the nebulin gene can cause severe congenital nemaline myopathy
C Wallgren-Pettersson et al.
NEUROMUSCULAR DISORDERS (2002)
Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle
EY Lee et al.
SCIENCE (2002)
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age
H Tajsharghi et al.
NEUROLOGY (2002)
A mutation in α-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
MA Corbett et al.
HUMAN MOLECULAR GENETICS (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)
Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function
DJ Milner et al.
JOURNAL OF CELL BIOLOGY (2000)
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