Neurology® Genetics. vol. 4 n. 4

Neurology® Genetics. vol. 4 n. 4

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Neurology® Genetics

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2018

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These violent repeats have violent extends
Autor/s:
Couthouis J, Gitler AD
Editorial
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e247.extract
Article
Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
Autor/s:
Hirano M, Samukawa M, Isono C, Saigoh K, Nakamura Y, Kusunoki S.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e252.abstract
Article
ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Autor/s:
Vittal P, Pandya S, Sharp K, Berry-Kravis E, Zhou L, Ouyang B, Jackson J, Hall DA.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e246.abstract
Article
Longitudinal analysis of contrast acuity in Friedreich ataxia
Autor/s:
Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR.
Any publicació:
2018
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Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e250.abstract
Article
Population genealogy resource shows evidence of familial clustering for Alzheimer disease
Autor/s:
Cannon-Albright LA, Dintelman S, Maness T, Cerny J, Thomas A, Backus S, Farnham JM, Teerlink CC, Contreras J, Kauwe JSK, Meyer LJ.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e249.abstract
Article
Impaired transmissibility of atypical prions from genetic CJDG114V
Autor/s:
Cali I, Mikhail F, Qin K, Gregory C, Solanki A, Martinez MC, Zhao L, Appleby B, Gambetti P, Norstrom E, Mastrianni JA.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e253.abstract
Article
SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
Autor/s:
Castoro R, Simmons M, Ravi V, Huang D, Lee C, Sergent J, Zhou L, Li J.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e255.abstract
Article
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
Autor/s:
King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e256.abstract
Article
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
Autor/s:
Hedberg-Oldfors C, Lindberg C, Oldfors A.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e254.abstract
Article
Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
Autor/s:
Calero-Romero I, Suter MR, Waeber B, Feihl F, Kuntzer T.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e251.abstract
Article
Association study between multiple system atrophy and TREM2 p.R47H
Autor/s:
Ogaki K, Heckman MG, Koga S, Martens YA, Labbé C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e257.abstract
Article
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Autor/s:
Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor R, Niyazov D, Caldecott KW.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e262.abstract
Article
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
Autor/s:
Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.
Clinical/Scientific Notes
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2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e248.extract
Article
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
Autor/s:
Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.
Clinical/Scientific Notes
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2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e258.extract
Article
GLRA1 mutation and long-term follow-up of the first hyperekplexia family
Autor/s:
Paucar M, Waldthaler J, Svenningsson P.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e259.extract
Article
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
Autor/s:
Sung AR, Moretti P, Shaibani A.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e260.extract
Article
Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
Autor/s:
Freret ME, Anastasaki C, Gutmann DH.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e261.extract
Article
Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
Autor/s:
Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 4
http://ng.neurology.org/content/4/4/e263.extract

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Neurology® Genetics. vol. 4 n. 4

Neurology® Genetics. vol. 4 n. 4

En aquest número

These violent repeats have violent extends

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome

Longitudinal analysis of contrast acuity in Friedreich ataxia

Population genealogy resource shows evidence of familial clustering for Alzheimer disease

Impaired transmissibility of atypical prions from genetic CJDG114V

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy

Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP

Association study between multiple system atrophy and TREM2 p.R47H

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

GLRA1 mutation and long-term follow-up of the first hyperekplexia family

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

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