Neurology® Genetics. vol. 4 n. 5

Neurology® Genetics. vol. 4 n. 5

Volumen:

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Neurology® Genetics

Año publicación:

2018

En este número

Genetic landscape of pediatric movement disorders and management implications.
Autor/es:
Cordeiro D, Bullivant G, Siriwardena K, Evans A, Kobayashi J, Cohn RD, Mercimek-Andrews S.
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e265.abstract
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD
Autor/es:
Bonham LW, Steele NZR, Karch CM, Manzoni C, Geier EG, Wen N, Ofori-Kuragu A, Momeni P, Hardy J, Miller ZA, Hess CP, Lewis P, Miller BL, Seeley WW, Baranzini SE, Desikan RS, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC).
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e266.abstract
Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease
Autor/es:
Wallen ZD, Chen H, Hill-Burns EM, Factor SA, Zabetian CP, Payami H
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e271.abstract
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis
Autor/es:
Soufi M, Ruppert V, Rinné S, Mueller T, Kurt B, Pilz G, Maieron A, Dodel R, Decher N, Schaefer JR
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e274.abstract
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
Autor/es:
Gardiner SL, Milanese C, Boogaard MW, Buijsen RAM, Hogenboom M, Roos RAC, Mastroberardino PG, Roon-Mom WMC, Aziz NA
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e275.abstract
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Autor/es:
Lee RG, Sedghi M, Salari M, Shearwood AM, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e276.abstract
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.
Autor/es:
Sloth CK, Denti F, Schmitt N, Bentzen BH, Fagerberg C, Vissing J, Gaist D.
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e267.extract
MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.
Autor/es:
Chaussenot A, Rouzier C, Fragaki K, Sacconi S, Ait-El-Mkadem S, Paquis-Flucklinger V, Bannwarth S.
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e268.extract
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.
Autor/es:
Komal FNU, Moretti PM, Shaibani AI.
Clinical/Scientific Notes
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e269.extract
CADASIL affecting a black African man.
Autor/es:
Vlok L, Brey N.
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e270.extract
DRESS after IV phenytoin associated with cytochrome P450 CYP2C9*3 homozygosity.
Autor/es:
Nissen MS, Beier CP.
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e272.extract
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.
Autor/es:
Carmona S, Marecos C, Amorim M, Ferreira AC, Conceição C, Brás J, Duarte ST, Guerreiro R.
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e273.extract
Correction
Correction: Zagnoli-Viera G, Bruni F, Thompson K, et al. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). Neurol Genet 2018;4:e262.
Año publicación:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 5
http://ng.neurology.org/content/4/5/e277.extract

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Neurology® Genetics. vol. 4 n. 5

Neurology® Genetics. vol. 4 n. 5

En este número

Genetic landscape of pediatric movement disorders and management implications.

Protein network analysis reveals selectively vulnerable regions and biological processes in FTD

Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease

Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.

Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.

CADASIL affecting a black African man.

DRESS after IV phenytoin associated with cytochrome P450 CYP2C9*3 homozygosity.

AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.

Correction

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