Results 101 to 110 of about 2,944 (151)

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

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

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

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

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

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

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