Results 71 to 80 of about 3,999 (130)

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis. [PDF]

J Orthop Case Rep
Alaeddine L, Sami B, Ismail K, Seifeddine T, Zied J, Mahmoud S.   +5 more
europepmc   +1 more source

Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. [PDF]

Hum Mol Genet
Baelde RJ, Vonk LA, Nollet EE, Galli RA, Monteiro AF, Bastu S, Das B, van Weeghel M, Schomakers BV, Vinten KT, van den Berg M, van der Velden J, Houtkooper RH, Voermans NC, Malfatti E, Ottenheijm CAC, de Winter JM.   +16 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Isolated Congenital Facial Nerve Aplasia in a 13-Year-Old Child: Imaging Findings and Long-Term Functional Adaptation. [PDF]

Cureus
Barfa R, Mathew A, R A, Sharma J.
europepmc   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. [PDF]

Cell Mol Gastroenterol Hepatol
Iyer A, Alizadeh M, Mariano JM, Kontrogianni-Konstantopoulos A, Raufman JP.   +4 more
europepmc   +1 more source

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives. [PDF]

Biomolecules
Lanza M, Zito E, Dinoi G, Buono AV, De Luca A, Imbrici P, Liantonio A, Conte E.   +7 more
europepmc   +1 more source