Neurology® Genetics. vol. 5 n. 4

Neurology® Genetics. vol. 5 n. 4

Volumen:

Veure revista:

Neurology® Genetics

Any publicació:

2019

En aquest número

Article de revisió
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.
Autor/s:
Quadir A, Pontifex CS, Lee Robertson H, Labos C, Pfeffer G.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e339.abstract
Article
Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity.
Autor/s:
Pedersen M, Kowalczyk M, Omidvarnia A, Perucca P, Gooley S, Petrou S, Scheffer IE, Berkovic SF, Jackson GD.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e340.abstract
Article
Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls.
Autor/s:
Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e341.abstract
Article
Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
Autor/s:
Young JI, Sivasankaran SK, Wang L, Ali A, Mehta A, Davis DA, Dykxhoorn DM, Petito CK, Beecham GW, Martin ER, Mash DC, Pericak-Vance M, Scott WK, Montine TJ, Vance JM.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e342.abstract
Article
Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series
Autor/s:
Andréasson M, Lagerstedt-Robinson K, Samuelsson K, Solders G, Blennow K, Paucar M, Svenningsson P.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e344.abstract
Article
MAPT p.V363I mutation: A rare cause of corticobasal degeneration
Autor/s:
Ahmed S, Fairen MD, Sabir MS, Pastor P, Ding J, Ispierto L, Butala A, Morris CM, Schulte C, Gasser T, Jabbari E, Pletnikova O, Morris HR, Troncoso J, Gelpi E, Pantelyat A, Scholz SW.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e347.abstract
Article
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
Autor/s:
Ziaei A, Xu X, Dehghani L, Bonnard C, Zellner A, Jin Ng AY, Tohari S, Venkatesh B, Haffner C, Reversade B, Shaygannejad V, Pouladi MA.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e345.abstract
Article
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts
Autor/s:
Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada...
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e348.abstract
Article
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
Autor/s:
Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. ...
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e349.abstract
Article
Missense mutations in DYT-TOR1A dystonia
Autor/s:
Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e343.extract
Article
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
Autor/s:
Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e346.extract
Article
Correction
Correction for: Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M. Missense mutations in DYT-TOR1A dystonia. Neurol Genet. 2019 Jun 6;5(4):e343. doi: 10.1212/NXG.0000000000000343. PMID: 31321303
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e350.extract
Article
Correction
Correction for: Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR,...
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e354.extract
Article
Correction
Correction for: Young JI, Sivasankaran SK, Wang L, Ali A, Mehta A, Davis DA, Dykxhoorn DM, Petito CK, Beecham GW, Martin ER, Mash DC, Pericak-Vance M, Scott WK, Montine TJ, Vance JM. Genome-wide Brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease. Neurol Genet...
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 4
http://ng.neurology.org/content/5/4/e355.extract

Una iniciativa de:

Cercador

Neurology® Genetics. vol. 5 n. 4

Neurology® Genetics. vol. 5 n. 4

En aquest número

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.

Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity.

Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls.

Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series

MAPT p.V363I mutation: A rare cause of corticobasal degeneration

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

Missense mutations in DYT-TOR1A dystonia

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

Correction

Correction

Correction

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!