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searching for Limb–girdle muscular dystrophy 62 found (117 total)

alternate case: limb–girdle muscular dystrophy

Calpain-3 (1,368 words) [view diff] exact match in snippet view article find links to article

1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell. 81 (1): 27–40. doi:10.1016/0092-8674(95)90368-2

MYOT (2,143 words) [view diff] case mismatch in snippet view article find links to article

Myotilin is mutated in various forms of muscular dystrophy: Limb-Girdle Muscular Dystrophy type 1A (LGMD1A), Myofibrillar Myopathy (MFM), Spheroid Body

SGCB (997 words) [view diff] exact match in snippet view article find links to article

[supplied by OMIM]. Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4). This condition causes pelvic

SGCA (1,204 words) [view diff] exact match in snippet view article find links to article

[supplied by OMIM]. Mutations in the SGCA gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 3 (LGMDR3). This condition causes progressive

ANO5 (707 words) [view diff] no match in snippet view article find links to article

Gnathodiaphyseal dysplasia (GDD), a rare skeletal syndrome. Limb Girdle Muscular Dystrophy 2L (LGMD2L, Autosomal Recessive 12) and Miyoshi Muscular Dystrophy

Calpain (2,448 words) [view diff] exact match in snippet view article find links to article

calpain 3 (also known as p94) is the gene product responsible for limb-girdle muscular dystrophy type 2A, calpain 10 has been identified as a susceptibility

SGCE (908 words) [view diff] no match in snippet view article find links to article

epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. 422 (1): 27–32. doi:10.1016/S0014-5793(97)01593-7

DCTN1 (1,632 words) [view diff] exact match in snippet view article find links to article

cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy. DCTN1 has been shown to interact with: BBS4, Dystonin, Grb2

POMT2 (649 words) [view diff] exact match in snippet view article find links to article

Falace A, Tessa A, et al. (2007). "POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes". Biochem. Biophys. Res. Commun. 363

Trafficking protein particle complex 11 (255 words) [view diff] no match in snippet view article find links to article

"Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability"

Hereditary inclusion body myopathy (1,661 words) [view diff] exact match in snippet view article find links to article

myopathy with Paget disease of bone and frontotemporal dementia; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis;

HNRPDL (688 words) [view diff] exact match in snippet view article find links to article

has been identified as the cause of the autosomal disorder, Limb-girdle muscular dystrophy. GRCh38: Ensembl release 89: ENSG00000152795 – Ensembl, May

UBR1 (899 words) [view diff] exact match in snippet view article find links to article

the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene". Hum. Mol. Genet. 4 (4): 717–25. doi:10.1093/hmg/4

Cure Rare Disease (730 words) [view diff] exact match in snippet view article find links to article

including Duchenne muscular dystrophy, various subtypes of Limb-girdle muscular dystrophy, spinocerebellar ataxia type 3 (SCA3), and ADSSL1 distal myopathy

Alpha-tubulin 3C (1,187 words) [view diff] exact match in snippet view article find links to article

for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)". Genomics. 29 (1): 163–9. doi:10.1006/geno

List of diseases (E) (921 words) [view diff] no match in snippet view article

Epidermoid carcinoma Epidermol Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica

PFDN1 (857 words) [view diff] exact match in snippet view article find links to article

hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed

RAGE (gene) (967 words) [view diff] no match in snippet view article

(September 2005). "The RAGE pathway in inflammatory myopathies and limb girdle muscular dystrophy". Acta Neuropathologica. 110 (3): 247–54. doi:10.1007/s00401-005-1043-3

Derek Blake (503 words) [view diff] no match in snippet view article find links to article

Mutations in the Fukutin Related-Protein gene (FKRP) identifies Limb Girdle Muscular Dystrophy 2I as a milder allelic variant of congenital muscular dystrophy

TOR1AIP1 (813 words) [view diff] exact match in snippet view article find links to article

(2016) TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul Disord. 26:500-503. doi: 10.1016/j.nmd.2016.05

Chaperone-assisted selective autophagy (1,144 words) [view diff] exact match in snippet view article find links to article

the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy". Nature Genetics. 44 (4): 450–5. doi:10.1038/ng.1103. PMC 3315599

Palladin (1,658 words) [view diff] exact match in snippet view article find links to article

members of this gene family. Myotilin mutations cause a form of limb-girdle muscular dystrophy, and mutations in myopalladin cause an inherited form of heart

Michel Fardeau (1,212 words) [view diff] exact match in snippet view article find links to article

Ubeda B, Collin H, Tomé FMS, Richard I, Beckmann J, « Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data on a small community

Kifunensine (1,270 words) [view diff] case mismatch in snippet view article find links to article

Sarcoglycanopathies are autosomal recessive muscular disorders of the Limb–girdle Muscular Dystrophy (LMGD) group. Four forms, LGMD 2C, 2D, 2E and 2F have been identified

FLNC (gene) (2,371 words) [view diff] exact match in snippet view article

subcellular localization of Filamin-C have been exhibited in limb-girdle muscular dystrophy and Duchenne muscular dystrophy. Mutations in Filamin C have

PSMD8 (2,284 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD6 (2,357 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD5 (2,420 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD3 (2,590 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD12 (2,490 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD11 (2,468 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD13 (2,660 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD9 (2,486 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

Alpha-actinin-2 (2,601 words) [view diff] exact match in snippet view article find links to article

with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy". Human Molecular Genetics. 8 (7): 1329–36. doi:10.1093/hmg/8

PSMA2 (2,990 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

Chromosome 15 (3,031 words) [view diff] exact match in snippet view article find links to article

protein Chromosome 15 Open Reading Frame 54 CAPN3: Calpain 3 (limb-girdle muscular dystrophy type 2A) CELF6: encoding protein Cugbp elav-like family member

PSMB3 (2,761 words) [view diff] exact match in snippet view article find links to article

PMID 12070660. S2CID 22396490. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD14 (2,797 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMA5 (2,993 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMA3 (3,160 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMA7 (3,229 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD4 (3,208 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMA6 (3,040 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD1 (3,214 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

Proteasome (prosome, macropain) subunit, alpha 1 (2,972 words) [view diff] exact match in snippet view article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB2 (2,861 words) [view diff] exact match in snippet view article find links to article

PMID 12070660. S2CID 22396490. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMA4 (3,063 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB5 (3,119 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews, KD; Moore, SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB6 (3,462 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB1 (3,183 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD2 (3,563 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMD10 (3,047 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB4 (3,031 words) [view diff] exact match in snippet view article find links to article

PMID 12070660. S2CID 22396490. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB4 (3,031 words) [view diff] exact match in snippet view article find links to article

PMID 12070660. S2CID 22396490. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB7 (3,313 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB10 (3,483 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB8 (3,957 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMC1 (3,859 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

PSMB9 (3,811 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

Rigid spine syndrome (2,085 words) [view diff] no match in snippet view article find links to article

heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy". Brain: A Journal of Neurology. 139 (Pt 8): 2154–2163. doi:10

Proteasome (12,671 words) [view diff] exact match in snippet view article find links to article

PMID 1328965. S2CID 28190967. Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78–85.

2019 in science (24,775 words) [view diff] no match in snippet view article find links to article

August 2019). "The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection". PLOS Pathogens