Results 121 to 130 of about 7,259,281 (171)

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +1 more source

Temperature-induced symptoms in adolescents and adults with spinal muscular atrophy. [PDF]

J Neuromuscul Dis
Ros LA, Vermeer LM, Sleutjes BT, Asselman FL, Kruitwagen-van Reenen ET, van der Woude DR, Bartels B, van der Pol WL, Wadman RI.   +8 more
europepmc   +1 more source

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy. [PDF]

BMC Neurol
Zanotti S, Ronchi D, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Bertolasi L, Del Bo R, Magri F, Velardo D, Comi GP, Corti S, Sciacco M.   +12 more
europepmc   +1 more source

Editorial: Genetics and mechanisms of neurodevelopmental disorders. [PDF]

Front Hum Neurosci
Munshi A, Kumar A, Banerjee S.
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related. [PDF]

J Neuromuscul Dis
Valls A, Ruiz-Roldán C, Immanuel J, Camaño P, Poza JJ, Fernández-Torrón R, López de Munain A, Sáenz A.   +7 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development. [PDF]

Neurol Clin Pract
Wicklund MP, Alfano LN, Johnson NE, Kang PB, Marks P, Mathews KD, Mendell JR, Rodino-Klapac L, Sproule D, Verdun N, Bryant K.   +10 more
europepmc   +1 more source

Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. [PDF]

Int J Mol Sci
Leońska-Duniec A.
europepmc   +1 more source

Insights into the heterogeneous muscle lipidome of dysferlin-deficient mice: effects of age, muscle type, and sex. [PDF]

Skelet Muscle
Keenan SN, Bayliss J, Lee O, Lloyd EM, Meikle PJ, Grounds MD, Watt MJ.   +6 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