Results 131 to 140 of about 1,798 (199)

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. [PDF]

Acta Neuropathol, 2023
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D.   +33 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases. [PDF]

Ann Clin Transl Neurol
Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez C, Jou C, Martí-Carrera I, López-Márquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento A, Gallardo E, Olivé M, Gallano P, González-Quereda L.   +24 more
europepmc   +1 more source

Three Cases of Levodopa-Carbidopa Responsive Nocturnal Akinesis in Male Children of an Inbred Family in Rural Baluchistan, Pakistan. [PDF]

Int J Mol Sci
Akram J, Ghaffar A, Usmani MA, Shareef U, Ahmed ZM, Riazuddin S, Riazuddin S.   +6 more
europepmc   +1 more source

Mutations of GEMIN5 are associated with coenzyme Q₁₀ deficiency: long-term follow-up after treatment. [PDF]

Eur J Hum Genet
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R.   +25 more
europepmc   +1 more source

Epilepsy in Duchenne and Becker muscular dystrophies. [PDF]

Ann Clin Transl Neurol
Armijo Gómez JA, Fernandez-Garcia MA, Camacho A, Liz M, Ortez C, Lafuente-Hidalgo M, Toledo Bravo-de Laguna L, Estévez-Arias B, Carrera-García L, Expósito-Escudero J, Domínguez-Carral J, Nascimento A, Natera-de Benito D.   +12 more
europepmc   +1 more source

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. [PDF]

J Neuromuscul Dis
Estévez-Arias B, Matalonga L, Martorell L, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Yubero D, Hoenicka J, Jou C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento A, Natera-de Benito D.   +15 more
europepmc   +1 more source

Historical trend on seed amino acid concentration does not follow protein changes in soybeans. [PDF]

Sci Rep, 2020
de Borja Reis AF, Tamagno S, Moro Rosso LH, Ortez OA, Naeve S, Ciampitti IA.   +5 more
europepmc   +1 more source

Quantifying interest in and sentiment of online media about greenhouse gas emissions from cattle production in the United States. [PDF]

Transl Anim Sci
Smith ML, Jung J, Olynk Widmar N, Ufer DJ, Berikou M, Lusk J.   +5 more
europepmc   +1 more source

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. [PDF]

Pediatr Neurol
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D.   +20 more
europepmc   +1 more source