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Longer titles found: Fukuyama congenital muscular dystrophy (view), Ullrich congenital muscular dystrophy (view), LMNA-related congenital muscular dystrophy (view)

searching for Congenital muscular dystrophy 26 found (64 total)

alternate case: congenital muscular dystrophy

CHKB (gene) (1,743 words) [view diff] case mismatch in snippet view article

Megaconial Congenital Muscular Dystrophy (MDCMC), and Narcolepsy. CHKB mutations have been majorly associated with Megaconial Congenital Muscular Dystrophy (MDCMC)
Mesoangioblast (343 words) [view diff] exact match in snippet view article find links to article
the effects of muscular dystrophy in golden retrievers with a congenital muscular dystrophy. The dogs given allogeneic cells survived; control animals died
POMT2 (638 words) [view diff] exact match in snippet view article find links to article
Van den Bergh PY, et al. (2007). "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation" (PDF). Neurology. 69
SEPN1 (1,189 words) [view diff] exact match in snippet view article find links to article
cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two
LARGE (742 words) [view diff] exact match in snippet view article find links to article
disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of
Markus Rüegg (575 words) [view diff] exact match in snippet view article find links to article
developed new approaches for the therapy of merosin-deficient congenital muscular dystrophy, a serious genetic disease. In addition, his research group
Derek Blake (503 words) [view diff] exact match in snippet view article find links to article
in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation
POMGNT1 (1,131 words) [view diff] exact match in snippet view article find links to article
Kéchaou MS, Jlidi R, et al. (January 2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the
Pikachurin (1,218 words) [view diff] exact match in snippet view article find links to article
associated with less binding with other proteins and causes some congenital muscular dystrophy. Pikachurin is the most recently identified dystroglycan ligand
POMT1 (1,019 words) [view diff] case mismatch in snippet view article find links to article
2006.09.005. PMID 17079174. GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia
Collagen, type VI, alpha 2 (978 words) [view diff] case mismatch in snippet view article find links to article
(4): 593–602. doi:10.1212/wnl.58.4.593. PMID 11865138. S2CID 24273894. GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview v t e
Collagen, type VI, alpha 1 (1,006 words) [view diff] case mismatch in snippet view article find links to article
326–9. doi:10.1016/S0960-8966(99)00022-X. PMID 10407855. S2CID 53256492. GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview v t e
Amyoplasia (771 words) [view diff] exact match in snippet view article find links to article
not develop properly due to a muscle disease (for example, a congenital muscular dystrophy). Similarly, connective tissue tendon and skeletal defects may
GDAP1 (1,079 words) [view diff] exact match in snippet view article find links to article
in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation
Joshua T. Mendell (1,286 words) [view diff] exact match in snippet view article find links to article
compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy". Human Mutation. 12 (2): 135. doi:10.1002/(SICI)1098-1004(
Multi/minicore myopathy (536 words) [view diff] exact match in snippet view article find links to article
cores are visible. Central core disease Centronuclear myopathy Congenital muscular dystrophy with rigidity of the spine There is presently no curative treatment
Laminin, beta 1 (1,251 words) [view diff] exact match in snippet view article find links to article
"Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy". Neuropediatrics. 28 (4): 217–22. doi:10.1055/s-2007-973703
Mustafa Abdalla Mohamed Salih (997 words) [view diff] exact match in snippet view article find links to article
holds two United States patents; one on a diagnostic method for congenital muscular dystrophy, and the other on an anticonvulsant extracted from broad beans
Michel Fardeau (1,205 words) [view diff] exact match in snippet view article find links to article
Manole E, Estournet B, Barois A, Campbell KP, Fardeau M, « Congenital muscular dystrophy with merosin deficiency », C-R Acad Sc, Paris, 1994, 317, p
Three prime untranslated region (2,576 words) [view diff] exact match in snippet view article find links to article
within the 3′-UTR of fukutin protein is linked to Fukuyama-type congenital muscular dystrophy. Elements in the 3′-UTR have also been linked to human acute
LMNA (2,698 words) [view diff] case mismatch in snippet view article find links to article
Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Congenital Muscular Dystrophy Overview". PMID 20301468. Cite journal requires |journal= (help)
Congenital disorder of glycosylation (3,130 words) [view diff] exact match in snippet view article find links to article
muscle-eye-brain) 253280 POMGNT1 1p34.1 FKTN-CDG (MDDGA4; Fukuyama congenital muscular dystrophy) 253800 FKTN 9q31.2 FKRP-CDG (MDDGB5; MDC1C) 606612 FKRP 19q13
List of diseases (C) (3,634 words) [view diff] exact match in snippet view article
Congenital mitral stenosis Congenital mixovirus Congenital mumps Congenital muscular dystrophy syringomyelia Congenital myopathy Congenital nephrotic syndrome
Arthrogryposis (3,356 words) [view diff] exact match in snippet view article find links to article
Adams RD (September 1957). "Arthrogryposis multiplex due to congenital muscular dystrophy". Brain. 80 (3): 319–34. doi:10.1093/brain/80.3.319. PMID 13471804
Magnetic resonance imaging (8,788 words) [view diff] exact match in snippet view article find links to article
2021). "Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern". Neuromuscular disorders : NMD
Digital polymerase chain reaction (6,806 words) [view diff] case mismatch in snippet view article find links to article
Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy". The Journal of Molecular Diagnostics. 14 (3): 233–246. doi:10