Centre de documentació: resultats de cerca | Siidon | Guttmann

Cercador

Article
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
Autor/s:
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e534
Article
Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6.
Autor/s:
Odo T, Okamoto T, Sato N, Takahashi Y.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e522
Article
Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant.
Autor/s:
Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e527
Article
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy.
Autor/s:
Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T, Yoshida T, Morita Y, Fujita A, Fukuda H, Miyake N, Mizuguchi T, Saito Y, Sekijima Y, Matsumoto N, Takahashi Y.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e531
Article
Ketogenic diet reduces Lafora bodies in murine Lafora disease.
Autor/s:
Israelian L, Wang P, Gabrielian S, Zhao X, Minassian BA.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e533
Article
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.
Autor/s:
Hautala T, Chen J, Tervonen L, Partanen T, Winqvist S, Lehtonen J, Saarela J, Kraatari M, Kuismin O, Vuorinen T, Glumoff V, Åström P, Huuskonen U, Lorenzo L, Casanova JL, Zhang SY, Seppänen MRJ. ...
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 6
https://ng.neurology.org/content/6/6/e532
Editorial
Celebrating the 100th Volume of the American Journal of Physical Medicine and Rehabilitation
Autor/s:
Frontera WR
Editorial
Any publicació:
2021
Número de revista:
American Journal of Physical Medicine & Rehabilitation. vol. 100 n. 1
https://journals.lww.com/ajpmr/Fulltext/2021/01000/Celebrating_the_100th_Volume_…
Editorial
Current evidence from the Randomised Controlled Trials Rehabilitation Checklist (RCTRACK) reporting guideline project.
Autor/s:
Negrini S, Chan L, Ferriero G, Frontera W, Heinemann A.
Editorial
Any publicació:
2021
Número de revista:
American Journal of Physical Medicine & Rehabilitation. vol. 100 n. 1
https://journals.lww.com/ajpmr/Fulltext/2021/01000/Current_Evidence_From_the_Ran…
Article
The structure of research questions in randomized-controlled trials in rehabilitation field: a methodological study.
Autor/s:
Arienti C, Lazzarini SG, Patrini M, Puljak L, Pollock A, Negrini S.
SPECIAL SECTION on RCTRACK Clinical Research
Any publicació:
2021
Número de revista:
American Journal of Physical Medicine & Rehabilitation. vol. 100 n. 1
https://journals.lww.com/ajpmr/Fulltext/2021/01000/The_Structure_of_Research_Que…
Article
Criteria to evaluate the quality of outcome reporting in RCTs of rehabilitation interventions.
Autor/s:
Wang D, Taylor-Vaisey A, Negrini S, Côté P.
SPECIAL SECTION on RCTRACK Clinical Research
Any publicació:
2021
Número de revista:
American Journal of Physical Medicine & Rehabilitation. vol. 100 n. 1
https://journals.lww.com/ajpmr/Fulltext/2021/01000/Criteria_to_Evaluate_the_Qual…