Results 141 to 150 of about 2,993 (188)

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement. [PDF]

Intern Med
Takeuchi Y, Masuda T, Kimura N, Sumi K, Jikumaru M, Eura N, Nishino I, Matsubara E.   +7 more
europepmc   +1 more source

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes. [PDF]

Front Med (Lausanne)
Rinella S, Anastasio G, Sapuppo A, Bianco ML, Leonardi R, Pavone P, Ruggieri M, Polizzi A.   +7 more
europepmc   +1 more source

Triaptosis: an endosome-dependent cell death modality. [PDF]

Cell Res
Tang D, Kang R, Kroemer G.
europepmc   +1 more source

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study. [PDF]

Ther Adv Rare Dis
Shieh PB, Hughes W, Wood M, Beggs AH, Lawlor MW, Coats J, Varfaj F, Graham RJ, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Buj Bello A, Servais L, MacBean V, Muntoni F, Foley AR, Blaschek A, James ES, Seferian A, Alfano LN, Duong T, Noursalehi M, Miller W, Lee J, Prasad S, Rico S.   +26 more
europepmc   +1 more source

Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a TBC1D8B variant: a case report. [PDF]

Clin Kidney J
Hu X, Cheng W, Xu X, Sun L, Wang G, Cheng H.   +5 more
europepmc   +1 more source

Bend it like BIN1: how a membrane-curving adaptor protein shapes cardiac physiology. [PDF]

Am J Physiol Heart Circ Physiol
Spooner HC, Dixon RE.
europepmc   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report. [PDF]

Front Med (Lausanne)
Zhu MM, Li DM, Wu YC, Yao Q, Qie MR, Sun WW.   +5 more
europepmc   +1 more source

Structural and functional characterization of interactions of myotubularin-related proteins

, 2012
openaire   +2 more sources

Quantitative comparison of PI(3,5)P₂ biosensors reveals SnxA is the most sensitive and unbiased. [PDF]

Mol Biol Cell
Swayhoover T, Weckerly CC, Hammond GRV.
europepmc   +1 more source