|1|Aerobic Training in Patients with Congenital Myopathy. (26751952)
Hedermann G.... Vissing J.
|2|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.
|3|Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (26700687)
Zaharieva I.T.... Muntoni F.
|4|Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. (26403434)
Malfatti E.... Romero N.B.
|5|A case of congenital myopathy masquerading as paroxysmal dyskinesia. (25506169)
Patel H.... Saini L.
|6|RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. (24951453)
Illingworth M.A.... Robb S.A.
|7|Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. (24692096)
Marttila M.... Wallgren-Pettersson C.
|8|Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. (24973498)
Vuillerot C.... BAPnnemann C.G.
|9|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.
|10|Congenital myopathy is caused by mutation of HACD1. (23933735)
Muhammad E.... Parvari R.
|11|Congenital myopathy with focal loss of cross-striations revisited. (23127960)
Voermans N.C.... de Visser M.
|12|Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. (22980765)
Jarraya M.... Carlier R.Y.
|13|Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. (22749829)
Robaszkiewicz K.... Moraczewska J.
|14|Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. (22798622)
Ochala J.... Fowler V.M.
|15|Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. (22371254)
Boyden S.E.... Kang P.B.
|16|Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. (22752422)
Bohm J.... Laporte J.
|17|Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (22818856)
Majczenko K.... Dowling J.J.
|18|Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. (23005904)
Nakamura K.... Hayasaka K.
|19|Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
Bevilacqua J.A.... Romero N.B.
|20|Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
Ben Yaou R.... Bonne G.
|21|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.
|22|Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. (18976909)
Feng J.J.... Marston S.
|23|Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. (19307547)
Giordano C.... d'Amati G.
|24|Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
Watanabe H.... Machida J.
|25|A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. (19645060)
Carpenter D.... Hopkins P.M.
|26|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.
|27|Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
Stamm D.S.... Powell C.M.
|28|Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. (17483490)
Zhou H.... Muntoni F.
|29|High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
Morava E.... Cruysberg J.R.
|30|Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. (16941741)
Na S.J.... Choi Y.C.
|31|Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. (15269486)
Sharma M.C.... Sarkar C.
Cabello A.... Ricoy-Campo J.R.
|33|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.
|34|Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (12136074)
Jungbluth H.... Muntoni F.
|35|Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (11571700)
Goebel H.H.... Voit T.
|36|A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. (11113224)
Scacheri P.C.... Subramony S.H.
|37|An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. (11063719)
Monnier N.... Lunardi J.
|38|Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies. (10329008)
Tseng B.S.... Butler I.J.
|39|Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy. (9845295)
Marbini A.... Margarito F.
|40|Mutations in the integrin alpha7 gene cause congenital myopathy. (9590299)
Hayashi Y.K.... Arahata K.
|41|The role of immunocytochemistry in congenital myopathies. (9713857)
|42|Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. (9236578)
Rudnik-SchAPneborn S.... Zerres K.
|43|Broad A band disease: a new benign congenital myopathy. (8618556)
Mrak R.E.... Brodsky M.C.
|44|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.
|45|Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. (7608737)
van der Ven P.F.... Ramaekers F.C.
|46|Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. (1483042)
Prelle A.... Scarlato G.
|47|Dystrophin deficiency in a case of congenital myopathy. (1552307)
Prelle A.... Bonilla E.
|48|Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). (1877612)
Linder N.... Sommer A.
|49|Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. (2821096)
Reyes M.G.... Bouffard A.
|50|"Cap disease": new congenital myopathy. (7196531)
Fidzianska A.... Dembek I.