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Institut Guttmann
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Publicacions científiques

  • proyecto que busca voluntarios con discapacidad
Article

Normative data for verbal fluency and naming tests in Spanish-speaking adults in the United States.

Autor/s: 
Olabarrieta-Landa L, Rivera D, Xia B, Moreno O, Ramos Usuga D, Morel Valdés GM, Lopez E, Rodriguez MJ, Carrión CI, Lequerica AH, Drago CI, García P, Rivera PM, Perrin PB, Arango-Lasprilla JC.
Any publicació: 
2024
Número de revista: 
NeuroRehabilitation vol. 55 n. 2
https://content.iospress.com/articles/neurorehabilitation/nre240087
Article

Noteworthy Performance of Muscle-Injured Para-Athletes: A Study of Magnetic Resonance Imaging-Detected Muscle Injuries at the Tokyo 2020 Summer Paralympic Games.

Autor/s: 
Katagiri H, Forster BB, Koga H, An JS, Adachi T, Derman W.
Evidence-Based Physiatry
Any publicació: 
2024
Número de revista: 
American Journal of Physical Medicine & Rehabilitation vol. 103 n. 7
https://journals.lww.com/ajpmr/fulltext/2024/07000/exploring_the_influence_of_pr…
Article

Nothing About Us Without Us: Improving Representation of Disability in Medical School Curriculum Through Explicit Inclusion.

Autor/s: 
Waters J, Siegel C, O'Connell D, Sacris J, Mallow M, Ziring D, Ankam N...
Education & Administration
Any publicació: 
2024
Número de revista: 
American Journal of Physical Medicine & Rehabilitation vol. 103 n. 12
https://journals.lww.com/ajpmr/fulltext/2024/12000/nothing_about_us_without_us__…

Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia.

Autor/s: 
Vasquez A, Schimmenti LA, Demirel N, Rabatin AE, Fischer CR, Pinto MV, Boesch RP, Selcen D.
Clinical/Scientific Notes
Any publicació: 
2024
Número de revista: 
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200216

Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.

Autor/s: 
Hoe RHM, Zhao Y, Ong HL, Tay KSS, Tan NCK, Khor MJY, Fan BE, Peikert K, Hermann A, Neo S, Chen Z.
Clinical/Scientific Notes
Any publicació: 
2024
Número de revista: 
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200207

Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype.

Autor/s: 
Tortora M, Cattaneo E, Spaccini L, Iascone M, Scelsa B, Micalizzi A, Novelli A, Lanna M, Righini A, Veggiotti P, Doneda C.
Clinical/Scientific Notes
Any publicació: 
2024
Número de revista: 
Neurology® Genetics. vol. 10 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200169

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies.

Autor/s: 
Lee CG, Kim HJ, Seol CA, Ki CS.
Clinical/Scientific Notes
Any publicació: 
2024
Número de revista: 
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200116

Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI.

Autor/s: 
Dulski J, Middlebrooks EH, Wszolek ZK.
NeuroImage
Any publicació: 
2024
Número de revista: 
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200125
Article

NOVEL RISK LOCI FOR COVID-19 HOSPITALIZATION AMONG ADMIXED AMERICAN POPULATIONS

Autor/s: 
Diz-de Almeida S, Cruz R, Luchessi AD, Lorenzo-Salazar JM, de Heredia ML, Quintela I, González-Montelongo R, et. al.
Any publicació: 
2024
https://elifesciences.org/articles/93666

Novel SGCE Mutation in a Patient With Myoclonus-Dystonia

Autor/s: 
Klinman E, Gooch C, Perlmutter JS, Davis AA, Maiti B
Clinical/Scientific Notes
Any publicació: 
2024
Número de revista: 
Neurology® Education vol. 3 n. 1
https://www.neurology.org/doi/full/10.1212/NE9.0000000000200113#body-ref-R1

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