Results 111 to 120 of about 2,940 (145)

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. [PDF]

Neurol Genet
Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J, VCP International Study Group.   +67 more
europepmc   +1 more source

Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders. [PDF]

Cell Commun Signal
Liu C, Lu Y, Zheng H, Duan S, Zhang H, Zhang Y, Liu H, Luo H, Xu Y.   +8 more
europepmc   +1 more source

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients. [PDF]

Neurol Genet
Sun H, Zheng F, Yu J, Meng L, Gang Q, Lv H, Zhang W, Yuan Y, Yu M, Wang Z.   +9 more
europepmc   +1 more source

Expanding carrier screening: beyond the genes, to include underrepresented ancestries. [PDF]

NPJ Genom Med
Bylstra Y, Jian PC, Lin S, Goh J, Choi C, Teo JX, Lim S, Hodgson J, Menezes M, Weng R, Amor DJ, Lim WK, Jamuar SS.   +12 more
europepmc   +1 more source

Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy [PDF]

core   +1 more source

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

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

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