Centro de documentación: resultados de la búsqueda

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
Autor/es:
Deeb R, Veerapandiyan A, Tawil R, Treidler S
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e284.extract
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
Autor/es:
Madigan NN, Tracy JA, Litchy WJ, Niu Z, Chen C, Ling K, Milone M
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e287.extract
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
Autor/es:
Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e288.extract
Correction
Correction for: Hewamadduma CA, Hoggard N, O'Malley R, et al. Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurol Genet 2018;4:e279. Doi: 10.1212/NXG.0000000000000279. PMID. 30533525
Número de revista:
Neurology® Genetics. vol. 4 n. 6
http://ng.neurology.org/content/4/6/e300.extract
Spotlight on the January 1 issue
Autor/es:
Gross RA
In Focus
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
http://n.neurology.org/content/92/1/1.extract
Message from the Editors to our Reviewers
Autor/es:
Gross RA, Worrall BB, Amato AA, Cascino GD, Ciccarelli O, Corboy JR, Dalmau JO, Gottesman RF, Grossman M, Millichap JJ, Mink JW, Pulst SM, Uitti RJ
Acknowledgment to Reviewers
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
http://n.neurology.org/content/92/1/3.extract
Misdiagnosis of multiple sclerosis: If you have a hammer, everything looks like a nail?
Autor/es:
Brownlee WJ
Editorial
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
http://n.neurology.org/content/92/1/15.extract
Noninvasive identification of seizure lateralization in children: Name that thing.
Autor/es:
Hamberger MJ, MacAllister WS, Seidel WT, Busch RM, Salinas CM, Klaas P, Smith ML.
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
Continuous EEG is associated with favorable hospitalization outcomes for critically ill patients.
Autor/es:
Hill CE, Blank LJ, Thibault D, Davis KA, Dahodwala N, Litt B, Willis AW.
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
http://n.neurology.org/content/92/1/e9.abstract
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Autor/es:
van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.
Año publicación:
2019
Número de revista:
Neurology vol. 92 n. 1
http://n.neurology.org/content/92/1/e19.abstract

Una iniciativa de:

Buscador

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Correction

Spotlight on the January 1 issue

Message from the Editors to our Reviewers

Misdiagnosis of multiple sclerosis: If you have a hammer, everything looks like a nail?

Noninvasive identification of seizure lateralization in children: Name that thing.

Continuous EEG is associated with favorable hospitalization outcomes for critically ill patients.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

¿Crees que falta información? ¡Haznos llegar tus sugerencias!