Results 151 to 160 of about 16,504 (255)

Genetic and Clinical Spectrum of Limb–Girdle Muscular Dystrophies in Western Sicily [PDF]

Nicasio Rini, Antonino Lupica, Paolo Alonge, Grazia Crescimanno, Antonia Pignolo, Christian Messina, Sandro Santa Paola, Marika Giuliano, Eugenia Borgione, Mariangela Lo Giudice, Carmela Scuderi, Vincenzo Di Stefano, Filippo Brighina   +12 more
openalex   +1 more source

Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain) [PDF]

, 1998
Miguel Urtasun
openalex   +1 more source

Limb-Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study. [PDF]

Muscles, 2023
Rodríguez AA, Amayra I, García I, Angelini C.   +3 more
europepmc   +1 more source

Novel compound heterozygous PLEC mutations lead to early-onset limb-girdle muscular dystrophy 2Q

, 2017
Jingzi Zhong, Gang Chen, Yi‐Wu Dang, Haixia Liao, Jiapeng Zhang, Dan Lan   +5 more
openalex   +2 more sources

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations [PDF]

, 2018
Kitae Kim, Hyung Jun Park, Jung Hwan Lee, Ji‐Man Hong, Suk-Won Ahn, Young‐Chul Choi   +5 more
openalex   +1 more source

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +1 more source

Limb-girdle muscular dystrophy TRAPPC11 related (LGMDR18) and central nervous system involvement

Diego Silva Figueiredo, Nuno C. Santos, Alexandre Motta Mecê, Aldrin Pedroza Martins, Izadora Vieira Bolzani Lopes Lima, Marcondes C. França, Alberto Martínez, Anamarli Nucci   +7 more
openalex   +1 more source

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation [PDF]

, 2003
Tamar Harel, Yael Goldberg, Stavit A. Shalev, Ilana Chervinski, Rivka Ofir, Ohad S. Birk   +5 more
openalex   +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

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