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Institut Guttmann

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Publicacions científiques

  • proyecto que busca voluntarios con discapacidad
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

Novel Techniques Could Contribute to Solving the Puzzle of Perinatal Stroke Etiology.

Autor/s: 
Bolk J.
Editorial
Any publicació: 
2024
Número de revista: 
Neurology vol. 102 n. 11
https://www.neurology.org/doi/full/10.1212/WNL.0000000000209552
Article

Nutrition and Food Security Among Veterans: Operationalizing Nutritional Functioning.

Autor/s: 
Brostow DP, Smith AA, Bahraini NH, Besterman-Dahan K, Forster JE, Brenner LA.
Any publicació: 
2024
Número de revista: 
Archives of Physical Medicine and Rehabilitation. vol. 105 n. 8
https://www.sciencedirect.com/science/article/pii/S0003999324008906

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