Results 101 to 110 of about 2,940 (145)

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances. [PDF]

Ann Indian Acad Neurol
Yoshioka W, Noguchi S, Nishino I.
europepmc   +1 more source

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance. [PDF]

Mol Med
Singh S, Bansal M, Sharma N, Yadav V, Mashangva F, Oswalia J, Gautam V, Jhingan GD, Subbarao N, Rathi B, Arya R.   +10 more
europepmc   +1 more source

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. [PDF]

Intern Med
Sakai K, Yamada S, Higuchi Y, Nishino I.
europepmc   +1 more source

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies. [PDF]

Kidney Int Rep
Huizing M, Ganguli A, Bolaños J, Leoyklang P, Wilkins KJ, Zeng Y, Figg WD, Rossignol F, Malicdan MCV, Kopp JB, Gahl WA, NIH-ManNAc Study Team.   +11 more
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study. [PDF]

J Neurol Neurosurg Psychiatry
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.   +17 more
europepmc   +1 more source

History and Perspective of LAMP-2 Deficiency (Danon Disease). [PDF]

Biomolecules
Sugie K, Nishino I.
europepmc   +1 more source

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis. [PDF]

Brain
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P.   +28 more
europepmc   +1 more source

Myotilin gene duplication causing late-onset myotilinopathy. [PDF]

Eur J Neurol
Spinazzi M, Savarese M, Letournel F, Sagath L, Manero F, Guichet A, Hoischen A, Metay C, Gouju J, Udd B.   +9 more
europepmc   +1 more source