Results 101 to 110 of about 7,259,281 (171)

Functional protein networks unifying limb girdle muscular dystrophy [PDF]

, 2011
Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes. These genes are often widely expressed and encode proteins with highly differing functions.
Morrée, A. de
core  

Mapping the Limb Girdle Muscular Dystrophy Gene

, 2007
肢帶型肌肉失養症是排除目前已知、特異性的退化性肌肉疾病後，一群由表現特徵為漸進式肩帶和腰帶等近端肌肉無力，以及肌肉萎縮為臨床表現的疾病總稱。它的臨床及基因遺傳表現具有多樣性，顯示是由不同的遺傳方式和病因所造成的疾病。我們研究一個四代、以體染色體顯性形式遺傳的漸進性肌肉無力家庭。首先，排除已知會造成體染色體顯性遺傳的肢帶型肌肉失養症基因的五個染色體位置所在，其中包含5q31 (1A)，1q11-21 (1B)，3p25 (1C)，6q23 (1D)和7q (1E)。在論文裡 ...
楊玉婉, Yang, Yu-Wan
core  

Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]

Cureus
Stone AM, Bunch CM, Gauger A, Seela G, Aboumourad N, Maust J, Picardal A, Roschyk CJ, Gonzales BA, Dollard AC, Abdelghani A, Yakey B, Klever RG, Miller J.   +13 more
europepmc   +1 more source

Anesthetic Management of a 33-Year-Old Female With Limb-Girdle Muscular Dystrophy Undergoing Laparoscopic Cholecystectomy: A Case Report. [PDF]

Cureus
Gargori N, Alboloshi AA, Nawawi A, Farsi S.   +3 more
europepmc   +1 more source

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers. [PDF]

Neurol Genet
Gaynor A, Enicks D, Karam K, Turcios-Hernandez L, Provenzano M, Heier CR, Hale MA, Johnson NE.   +7 more
europepmc   +1 more source

Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous <i>LMNA</i> variants. [PDF]

J Endocr Soc
Anum, Li X, Brown RJ, Garg A.
europepmc   +1 more source

Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1. [PDF]

Orphanet J Rare Dis
Li G, Guo Y, Wang G, Liu H, Lv X, Lin P.
europepmc   +1 more source

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype. [PDF]

Hum Mol Genet
Kramerova I, Anastopulos F, Becerra D, Goldstein de Salazar R, Keeble AR, Chamberlain JS, Moore SA, McNally EM, Spencer MJ.   +8 more
europepmc   +1 more source

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

An Unbiased Drug Screen in a Drosophila Model of <i>LMNA</i>-Muscular Dystrophy Identifies Calcium Channel Blockers as Potential Treatments. [PDF]

Int J Mol Sci
Mohar NP, Powers BA, Hinz BE, Bock AR, McCoy-Munger H, Darr Z, Shumaker MW, Wemmie AT, Saxena A, Wallrath LL.   +9 more
europepmc   +1 more source