Results 41 to 50 of about 7,136 (124)

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy. [PDF]

Hum Genomics
Tlili A, Al Mutery A.
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

Limb-girdle muscular dystrophy [PDF]

, 2020
openaire   +1 more source

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Cureus
AlAamer R, Alanzi A, Alatefi D, Alselaiti AA.   +3 more
europepmc   +1 more source

Rumination Swallowing in Limb-Girdle Muscular Dystrophy. [PDF]

Cureus
Hayashi K, Mitsuhashi S, Sato M, Nakaya Y, Suzuki A, Kobayashi Y.   +5 more
europepmc   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study. [PDF]

Ann Clin Transl Neurol
Hunn SM, Alfano LN, Jones A, Butler A, Lowes LP, Iammarino MA, Reash NF, Pietruszewski L, Sasidharan S, Currence M, Statland JM, Strahler T, Will R, Wicklund M, Dixon S, Augsburger R, Mozaffar T, Laubscher KM, Mockler SRH, Mathews KD, Stinson N, Leung DG, Stark MM, Horton RA, Kang PB, James MK, Clause A, Weihl CC, Johnson NE, GRASP‐LGMD Consortium.   +29 more
europepmc   +1 more source

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy. [PDF]

Cells
Valls A, Ruiz-Roldán C, Immanuel J, Alonso-Martín S, Gallardo E, Fernández-Torrón R, Bonilla M, Lersundi A, Hernández-Laín A, Domínguez-González C, Vílchez JJ, Iruzubieta P, López de Munain A, Sáenz A.   +13 more
europepmc   +1 more source

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. [PDF]

J Cachexia Sarcopenia Muscle
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P.   +21 more
europepmc   +1 more source

Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy and left ventricular ejection fraction of 27%: a case report. [PDF]

Front Med (Lausanne)
Xie W, Huang LC, Luo D, Kang L, Hu K, Liu X, Mei J.   +6 more
europepmc   +1 more source

Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report. [PDF]

Eur Heart J Case Rep
Zhang X, Luo Y, Zhao Y, Lu H, Ji X.
europepmc   +1 more source