Results 131 to 140 of about 3,537,976 (165)

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +1 more source

Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy. [PDF]

Cells
García-Rubio A, De Los Santos JS, Izquierdo JM.   +2 more
europepmc   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report. [PDF]

Front Med (Lausanne)
Zhu MM, Li DM, Wu YC, Yao Q, Qie MR, Sun WW.   +5 more
europepmc   +1 more source

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. [PDF]

Acta Myol
Majoul MS, Zouari R, Hassine A, Mokni M, Ben Sassi S.   +4 more
europepmc   +1 more source

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +1 more source

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. [PDF]

Nat Commun
Yeow D, Reis ALM, Stevanovski I, Njo N, Rudaks LI, Grosz BR, Sy JS, Kemp L, Chintalaphani SR, Chin M, Stoll M, Zhu D, Liang C, Morris KA, Hannaford A, Shandiz E, Ahmad KE, El-Wahsh S, Reddel SW, Boland-Freitas R, Ghaoui R, Barnes S, Sturm J, Willard A, Jasinarachchi M, Hawke S, Simon NG, Worgan L, Manser D, Tchan M, Griffith NC, Davis RL, Fahey MC, Sue CM, McCombe PA, Ng K, Kennerson ML, Cheong PL, Kumar KR, Deveson IW.   +39 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

The Multifaceted Role of the <i>FLNC</i> Gene in Hereditary Cardiomyopathies and Prognosis. [PDF]

Genes (Basel)
D'Apolito M, Ranaldi A, Gaudiano T, Maffione AB, Santacroce R, D'Andrea G, Iacoviello M, Margaglione M.   +7 more
europepmc   +1 more source

Advanced modelling of RYR1-related myopathies using human iPS cells and 3D engineered skeletal muscles

Rossi L, Choi S, Olden IT, Biehler A, Healy L, Muntoni F, Baranello G, Sarkozy A, Lionello VM, Tedesco FS.   +9 more
europepmc   +1 more source

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Review for "Genetic and Structural Variations in Czech Patients With Congenital Myopathies"

  +5 more sources