Results 91 to 100 of about 7,609 (172)

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. [PDF]

Eur J Neurol
Demicheli E, Zamora A, Sánchez N, Colistro V, Vicente B, Salazar E, Chiesa M, Santos A, Benvenuto F, Sans M, Vázquez MC.   +10 more
europepmc   +1 more source

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

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

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

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