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Quoted phrase not found in phrase index: "Muscular dystrophy, congenital, with rapid progression"
Page 1
Home ventilation.
Simonds AK. Simonds AK. Eur Respir J Suppl. 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. Eur Respir J Suppl. 2003. PMID: 14621116 Free article. Review.
Patients with progressive neuromuscular disease such as Duchenne muscular dystrophy and amyotrophic lateral sclerosis can also derive prolongation of life, palliation of symptoms and an improvement in quality of life. ...Most work on paediatric home ve …
Patients with progressive neuromuscular disease such as Duchenne muscular dystrophy and amyotrophic lateral scle …
MYO-MRI diagnostic protocols in genetic myopathies.
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group. Warman Chardon J, et al. Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Neuromuscul Disord. 2019. PMID: 31727541 Review.
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increas …
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopat …
Intellectual disability in paediatric patients with genetic muscle diseases.
Specht S, Straub V. Specht S, et al. Neuromuscul Disord. 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012. Neuromuscul Disord. 2021. PMID: 34736636 Review.
The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. ...The recent scientific literature on this topic is reviewed, the frequency of intellectual disability asses …
The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in gen …
The differential diagnosis of the human dystrophinopathies and related disorders.
Kakulas BA. Kakulas BA. Curr Opin Neurol. 1996 Oct;9(5):380-8. doi: 10.1097/00019052-199610000-00012. Curr Opin Neurol. 1996. PMID: 8894415 Review.
These autosomal recessive muscle diseases are results of mutations of alpha-, beta-, or gamma-sarcoglycans and may be severe (Duchenne muscular dystrophy-like) or mild (limb girdle muscular dystrophy) depending upon whether there is a 'null' mutation w …
These autosomal recessive muscle diseases are results of mutations of alpha-, beta-, or gamma-sarcoglycans and may be severe (Duchenne mu …
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Tan D, Ge L, Fan Y, Chang X, Wang S, Wei C, Ding J, Liu A, Wang S, Li X, Gao K, Yang H, Que C, Huang Z, Li C, Zhu Y, Mao B, Jin B, Hua Y, Zhang X, Zhang B, Zhu W, Zhang C, Wang Y, Yuan Y, Jiang Y, Rutkowski A, Bönnemann CG, Wu X, Xiong H. Tan D, et al. Orphanet J Rare Dis. 2021 Jul 19;16(1):319. doi: 10.1186/s13023-021-01950-x. Orphanet J Rare Dis. 2021. PMID: 34281576 Free PMC article.
BACKGROUND: LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. ...Motor reg …
BACKGROUND: LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2 …
Natural history of Ullrich congenital muscular dystrophy.
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F. Nadeau A, et al. Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. Neurology. 2009. PMID: 19564581
OBJECTIVE: To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death. ...Two patients died of respir …
OBJECTIVE: To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with s …
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH. Kim SY, et al. Muscle Nerve. 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093. Muscle Nerve. 2018. PMID: 29406609
METHODS: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. RESULTS: Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ul …
METHODS: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital mu …
Protein defects in neuromuscular diseases.
Vainzof M, Zatz M. Vainzof M, et al. Braz J Med Biol Res. 2003 May;36(5):543-55. doi: 10.1590/s0100-879x2003000500001. Epub 2003 Apr 22. Braz J Med Biol Res. 2003. PMID: 12715073 Free article. Review.
Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe …
Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a pri …
Electric powered wheelchairs for those with muscular dystrophy: problems of posture, pain and deformity.
Richardson M, Frank AO. Richardson M, et al. Disabil Rehabil Assist Technol. 2009 May;4(3):181-8. doi: 10.1080/17483100802543114. Disabil Rehabil Assist Technol. 2009. PMID: 19199130
PURPOSE: To identify areas of difficulty encountered by a regional wheelchair service in providing Electric Powered Indoor/outdoor wheelchairs (EPIOCs) to those with muscular dystrophy (MD) in the early years of their provision--particularly posture, pain and deform …
PURPOSE: To identify areas of difficulty encountered by a regional wheelchair service in providing Electric Powered Indoor/outdoor wheelchai …
Zebrafish models flex their muscles to shed light on muscular dystrophies.
Berger J, Currie PD. Berger J, et al. Dis Model Mech. 2012 Nov;5(6):726-32. doi: 10.1242/dmm.010082. Dis Model Mech. 2012. PMID: 23115202 Free PMC article. Review.
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. ...As an adjunct tool, morpholino studies provide insight into the molecular function of gen …
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by pro …
12 results