Publicacions científiques

Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B,...

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 9

https://academic.oup.com/brain/article/145/9/3308/6628315

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Autor/s:

do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A.

Reports

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 12

https://academic.oup.com/brain/article-abstract/145/12/4202/6661440

Una iniciativa de:

Cercador

Validity and Diagnosis in Physical and Rehabilitation Medicine: Critical View and Future Perspectives.

Validity and reliability of the fatigue impact scale in stroke.

Validity and responsiveness of the Standing and Walking Assessment Tool for sub-acute traumatic spinal cord injury.

Validity of the Utrecht scale for evaluation of rehabilitation-participation restrictions scale in a hospital-based stroke population 3 months after stroke.

Valor pronóstico y discriminativo de la prueba Short Physical Performance Battery (SPPB) en pacientes con ictus

Valproate-Induced Reversible Hemichoreoathetosis in a Patient With Rasmussen Encephalitis.

Vanishing White Matter Disease Presenting as Dementia and Infertility: A Case Report.

VARIABLES PREDICTORAS DE LA DURACIÓN DE LA AMNESIA POSTRAUMÁTICA TRAS UN TRAUMATISMO CRANEOENCEFÁLICO

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

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