Results 111 to 120 of about 2,944 (151)

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women. [PDF]

Clin Pharmacol Drug Dev
Evans AM, Fornasini G, Meola TR, Gahl WA, Huizing M, Polasek TM, Reuter SE.   +6 more
europepmc   +1 more source

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.   +21 more
europepmc   +1 more source

Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders. [PDF]

PLoS One
de Albuquerque BHDR, Lanza DCF.
europepmc   +1 more source

Association of HLA-DR, HLA-DQ, and HLA-B alleles with inclusion body myositis risk: A systematic review, a meta-analysis, a meta-regression and a trial sequential analysis. [PDF]

Int J Immunopathol Pharmacol
Dhaouadi T, Riahi A, Ben Abdallah T, Gorgi Y, Sfar I.   +4 more
europepmc   +1 more source

Seeding-competent TDP-43 persists in human patient and mouse muscle. [PDF]

Sci Transl Med
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC.   +12 more
europepmc   +1 more source

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. [PDF]

J Neuromuscul Dis
Roos A, Häusler M, Kollipara L, Topf A, Preusse C, Stucka R, Nolte K, Strom T, Berutti R, Jiang X, Koll R, Lochmüller H, Schacht SM, Zahedi RP, Weis J, Senderek J.   +15 more
europepmc   +1 more source

Effects of Ipragliflozin on Skeletal Muscle Adiposity in Patients with Diabetes and Metabolic Dysfunction-associated Steatotic Liver Disease. [PDF]

Intern Med
Ishimaru Y, Kessoku T, Nonaka M, Kitajima Y, Hyogo H, Nakajima T, Imajo K, Kubotsu Y, Isoda H, Kawanaka M, Yoneda M, Anzai K, Nakajima A, Furukawa K, Kawaguchi A, Takahashi H.   +15 more
europepmc   +1 more source

Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +1 more source

Systemic Availability of Human Milk Oligosaccharides in Infants and Adults: A Narrative Review. [PDF]

Adv Nutr
Schenk S, Bode L, Jensen SR, Schönknecht YB, Simon MC.   +4 more
europepmc   +1 more source