Publicacions científiques

Article

NOVEL GENES AND SEX DIFFERENCES IN COVID-19 SEVERITY

Autor/s:

Cruz R, Diz-de Almeida S, López de Heredia M, Quintela I, et al.; SCOURGE Cohort Group; HOSTAGE Cohort Group; GRA@CE Cohort Group; Guillen-Navarro E, Ayuso C, González-Neira A, Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Carracedo A.

Any publicació:

2022

https://academic.oup.com/hmg/article/31/22/3789/6607933?login=false

Article

NOVEL INSIGHTS INTO THE EFFECTS OF LEVODOPA ON THE UP- AND DOWNSTROKES OF WRITING SEQUENCES

Autor/s:

Broeder S, Boccuni L, Vandendoorent B, Verheyden G, Meesen R, Nieuwboer A.

Any publicació:

2022

https://link.springer.com/article/10.1007/s00702-022-02493-6

Article

Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.

Autor/s:

Hippen M, Zsurka G, Peeva V, Machts J, Schwiecker K, Debska-Vielhaber G, Wiesner RJ, Vielhaber S, Kunz WS.

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 2

https://ng.neurology.org/content/8/2/e660

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Autor/s:

Nicita F, Travaglini L, Bombelli F, Tosi M, Pro S, Bertini E, D'Amico A...

Clinical/Scientific Notes

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 2

https://ng.neurology.org/content/8/2/e661

Article

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism

Autor/s:

Nan H, Kim YJ, Tsuchiya M, Ishida A, Haro H, Hiraide M, Ohtsuka T, Takiyama Y

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 1

https://ng.neurology.org/content/8/1/e651

Article

Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability.

Autor/s:

Yi S, Chen F, Qin Z, Yi S, Huang L, Huang L, Feng Y, Wei H, Yang Q, Zhang Q, Luo J.

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 6

https://ng.neurology.org/content/8/6/e200025

Article

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

Autor/s:

Primiano G, Torraco A, Verrigni D, Sabino A, Bertini E, Carrozzo R, Silvestri G, Servidei S

Clinical/Scientific Notes

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 4

https://ng.neurology.org/content/8/4/e200007

Article

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.

Autor/s:

Wu PM, Yu WH, Chiang CW, Wu CY, Chen JS, Tu YF.

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 1

https://ng.neurology.org/content/8/1/e646

Article

Novelty-Related fMRI Responses of Precuneus and Medial Temporal Regions in Individuals at Risk for Alzheimer Disease.

Autor/s:

Billette OV, Ziegler G, Aruci M, Schütze H, Kizilirmak JM, Richter A, Altenstein S, Bartels C, Brosseron F, Cardenas-Blanco A, Dahmen P, Dechent P, Dobisch L, Fliessbach K, Freiesleben SD, Glanz W, Göerß D, Haynes JD, Heneka MT, Kilimann I, Kimmich O, Kleineidam L, Laske C, Lohse A, Rostamzadeh A,...

Any publicació:

2022

Número de revista:

Neurology vol. 99 n. 8

https://n.neurology.org/content/99/8/e775

Article

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.

Autor/s:

Iffland PH, Everett ME, Cobb-Pitstick KM, Bowser LE, Barnes AE, Babus JK, Romanowski AJ, Baybis M, Elziny S, Puffenberger EG, Gonzaga-Jauregui C, Poulopoulos A, Carson VJ, Crino PB.

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 11

https://academic.oup.com/brain/article-abstract/145/11/3872/6524443

Una iniciativa de:

Cercador

NOVEL GENES AND SEX DIFFERENCES IN COVID-19 SEVERITY

NOVEL INSIGHTS INTO THE EFFECTS OF LEVODOPA ON THE UP- AND DOWNSTROKES OF WRITING SEQUENCES

Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism

Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability.

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.

Novelty-Related fMRI Responses of Precuneus and Medial Temporal Regions in Individuals at Risk for Alzheimer Disease.

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.

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