Centre de documentació: resultats de cerca | Siidon | Guttmann

Cercador

Article
Three-dimensional imaging in myotonic dystrophy type 1. Linking molecular alterations with disease phenotype
Autor/s:
Three-dimensional imaging in myotonic dystrophy type 1. Linking molecular alterations with disease phenotype
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e484
Article
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
Autor/s:
Misko AL, Liang Y, Kohl JB, Eichler F
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e486
Article
Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.
Autor/s:
Yasuda R, Yoshida T, Mizuta I, Watanabe M, Nakano M, Sato R, Tokuda Y, Omi N, Sakai N, Nakagawa M, Tashiro K, Mizuno T.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e442
Article
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Autor/s:
Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, Dyment DA.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e452
Article
A novel PRNP-G131R variant associated with familial prion disease.
Autor/s:
Alshaikh JT, Qin K, Zhao L, Mastrianni JA.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e454
Article
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.
Autor/s:
Mihaylova V, Chablais F, Herenger Y, Spiegel R, Heinrich Jung H.
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e458
Article
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
Autor/s:
Kazamel M, Lopez MA, Bebin M, Bowling K, Korf BR, Barsh GS, Cooper GM, Hurst ACE, Ubogu EE
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e476
Article
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
Autor/s:
Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, Elisabet Waldenlind, Petersson S, Nordin L, Svenningsson P
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e474
Article
GLUT1 deficiency. Retinal detrimental effects of gliovascular modulation
Autor/s:
Henry M, Kitchens J, Pascual JM, Maldonado RS
Clinical/Scientific Notes
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e472
Article
Which interventions are effective in preventing falls in people with multiple sclerosis? A Cochrane Review summary with commentary.
Autor/s:
Amatya B, Khan F.
Cochrane Corner
Any publicació:
2020
Número de revista:
NeuroRehabilitation vol. 47 n. 1
https://content.iospress.com/articles/neurorehabilitation/nre209005