Publicacions científiques

Guedes VA, Kenney K, Shahim P, Qu BX, Lai C, Devoto C, Walker WC, Nolen T, Diaz-Arrastia R, Gill JM; CENC Multisite Observational Study Investigators.

Any publicació:

2020

Número de revista:

Neurology vol. 94 n. 23

https://n.neurology.org/content/94/23/e2412

Article

Expanded genetic insight and clinical experience of DNMT1-complex disorder.

Autor/s:

Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ.

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 4

https://ng.neurology.org/content/6/4/e456

Article

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Autor/s:

Brusa R, Mauri E, Dell’Arti L, Magri F, Ronchi D, Minorini V, Mainetti C, Gagliardi D, Faravelli I, Meneri M, Bresolin N, Viola F, Corti S, Comi GP

Clinical/Scientific Notes

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 5

https://ng.neurology.org/content/6/5/e511

Article

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.

Autor/s:

Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS.

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 1

https://ng.neurology.org/content/6/1/e381

Article

Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.

Autor/s:

Elizondo-Plazas A, Ibarra-Ramírez M, Garza-Báez A, Martínez-de-Villarreal LE.

Clinical/Scientific Notes

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 3

https://ng.neurology.org/content/6/3/e432

Article

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Autor/s:

Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 3

https://ng.neurology.org/content/6/3/e425

Article de revisió

Experiences with and perspectives on goal setting in spinal cord injury rehabilitation: a systematic review of qualitative studies.

Autor/s:

Maribo T, Jensen CM, Madsen LS, Handberg C.

Review Article

Any publicació:

2020

Número de revista:

Spinal Cord vol. 58 n. 9

https://www.nature.com/articles/s41393-020-0485-8

Una iniciativa de:

Cercador

Exome-chip association analysis of intracranial aneurysms.

Exoskeletal-Assisted Walking During Acute Inpatient Rehabilitation Leads to Motor and Functional Improvement in Persons With Spinal Cord Injury: A Pilot Study.

Exoskeleton-assisted Gait Training in Persons With Multiple Sclerosis: A Single-Group Pilot Study.

Exosomal neurofilament light: A prognostic biomarker for remote symptoms after mild traumatic brain injury?

Expanded genetic insight and clinical experience of DNMT1-complex disorder.

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.

Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Experiences with and perspectives on goal setting in spinal cord injury rehabilitation: a systematic review of qualitative studies.

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!