|1|Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. (27484770)
Straussberg R.... Schuelke M.
|2|A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. (27177998)
Willis T.... Oldfors A.
|3|Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. (26172852)
Witting N.... Vissing J.
|4|Aerobic Training in Patients with Congenital Myopathy. (26751952)
Hedermann G.... Vissing J.
|5|Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. (25978979)
Borovikov Y.S.... Redwood C.S.
|6|Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. (26403434)
Malfatti E.... Romero N.B.
|7|A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. (26001911)
Henry J.M.... Selcen D.
|8|A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. (25987458)
Dai Y.... Cui L.
|9|A case of congenital myopathy masquerading as paroxysmal dyskinesia. (25506169)
Patel H.... Saini L.
|10|RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. (24951453)
Illingworth M.A.... Robb S.A.
|11|Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. (24973498)
Vuillerot C.... BAPnnemann C.G.
|12|Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. (25079567)
Piteau S.J.... MacKenzie J.J.
|13|Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (23800289)
Esposito T.... Di Iorio G.
|14|Congenital myopathy is caused by mutation of HACD1. (23933735)
Muhammad E.... Parvari R.
|15|RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. (23553787)
Zhou H.... Muntoni F.
|16|Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. (22980765)
Jarraya M.... Carlier R.Y.
|17|Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. (22749829)
Robaszkiewicz K.... Moraczewska J.
|18|Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. (22798622)
Ochala J.... Fowler V.M.
|19|Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (22818856)
Majczenko K.... Dowling J.J.
|20|Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. (22693000)
FidziaA8ska A.... Glinka Z.
|21|Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (22560515)
Ockeloen C.W.... van Alfen N.
|22|Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. (21514153)
Saito Y.... Nishino I.
|23|Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
Bevilacqua J.A.... Romero N.B.
|24|Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene. (20452215)
Haigh S.E.... Nongthomba U.
|25|RYR1 mutations are a common cause of congenital myopathies with central nuclei. (20839240)
Wilmshurst J.M.... Jungbluth H.
|26|Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. (18976909)
Feng J.J.... Marston S.
|27|Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. (19074617)
Rooney J.E.... Burkin D.J.
|28|Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. (18253926)
Monnier N.... Lunardi J.
|29|Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
Stamm D.S.... Powell C.M.
|30|Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (19026398)
Compton A.G.... North K.N.
|31|Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. (17483490)
Zhou H.... Muntoni F.
|32|Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (17846275)
Tajsharghi H.... Oldfors A.
|33|Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation. (16977479)
Weise C.... Brand-Saberi B.
|34|Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. (15564033)
Jungbluth H.... Muntoni F.
|35|Congenital myopathies: diseases of the actin cytoskeleton. (15495263)
Clarkson E.... Machesky L.M.
|36|A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. (12719381)
Monnier N.... Lunardi J.
|37|Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions. (12690567)
FidziaA8ska A.... KamiA8ska A.
Cabello A.... Ricoy-Campo J.R.
|39|Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (12136074)
Jungbluth H.... Muntoni F.
|40|Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. (11555456)
Mulder E.J.... Visser G.H.
|41|A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. (11113224)
Scacheri P.C.... Subramony S.H.
|42|Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands. (10063836)
Goebel H.H.... Anderson J.R.
|43|Mutations in the integrin alpha7 gene cause congenital myopathy. (9590299)
Hayashi Y.K.... Arahata K.
|44|The role of immunocytochemistry in congenital myopathies. (9713857)
|45|Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy. (9845295)
Marbini A.... Margarito F.
|46|Broad A band disease: a new benign congenital myopathy. (8618556)
Mrak R.E.... Brodsky M.C.
|47|Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
Waclawik A.J.... Rust R.S.
|48|Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. (7908614)
Gerdes A.M.... ndum-Nielsen K.
|49|Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). (1877612)
Linder N.... Sommer A.
|50|"Cap disease": new congenital myopathy. (7196531)
Fidzianska A.... Dembek I.