Works matching IS 13646745 AND DT 2024 AND VI 25 AND IP 4

Results: 14

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 377, doi. 10.1007/s10048-024-00768-6

By:

Agha Gholizadeh, Mehdi;
Behjati, Farkhondeh;
Ghasemi Firouzabadi, Saghar;
Heidari, Erfan;
Razmara, Ehsan;
Almadani, Navid;
Sharifi Zarchi, Ali;
Garshasbi, Masoud

Publication type:

Article

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 417, doi. 10.1007/s10048-024-00775-7

By:

Haj Mohammad Hassani, Behzad;
Malekzadeh, Kianoosh

Publication type:

Article

Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 481, doi. 10.1007/s10048-024-00778-4

By:

Zhao, Yinglin;
Zheng, Shaoxiong;
Zhang, Handi;
Zhang, Yinnan;
Wang, Zidong;
Huang, Qingjun

Publication type:

Article

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 471, doi. 10.1007/s10048-024-00777-5

By:

Shin, Hui Jin;
Lee, Sangbo;
Kim, Se Hee;
Lee, Joon Soo;
Oh, Ji Young;
Ko, Ara;
Kang, Hoon-Chul

Publication type:

Article

A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 351, doi. 10.1007/s10048-024-00771-x

By:

Postberg, Jan;
Schubert, Michèle Tina;
Nin, Vincent;
Wagner, Lukas;
Piefke, Martina

Publication type:

Article

The role of gut-derived short-chain fatty acids in Parkinson's disease.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 307, doi. 10.1007/s10048-024-00779-3

By:

Saadh, Mohamed J.;
Mustafa, Anfal Nabeel;
Mustafa, Mohammed Ahmed;
S, Renuka Jyothi.;
Dabis, Hasan Khalid;
Prasad, G. V. Siva;
Mohammad, Imad Jassim;
Adnan, Ahmed;
Idan, Ameer Hassan

Publication type:

Article

Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs).

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 293, doi. 10.1007/s10048-024-00774-8

By:

Carballo-Pacoret, P.;
Carracedo, A.;
Rodriguez-Fontenla, C.

Publication type:

Article

TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 367, doi. 10.1007/s10048-024-00772-w

By:

Xu, Yang;
Teng, XiaoDan;
Wei, Ming;
Liu, Yang

Publication type:

Article

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 435, doi. 10.1007/s10048-024-00776-6

By:

Chawla, Tanushree;
Nashi, Saraswati;
Baskar, Dipti;
Polavarapu, Kiran;
Vengalil, Seena;
Bardhan, Mainak;
Preethish-Kumar, Veeramani;
Sukrutha, Ramya;
Unnikrishnan, Gopikrishnan;
Huddar, Akshata;
Padmanabha, Hansashree;
Anjanappa, Ram Murthy;
Bevinahalli, Nandeesh;
Nittur, Vidya;
Rajanna, Manoj;
Arunachal Udupi, Gautham;
Nalini, Atchayaram

Publication type:

Article

Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 393, doi. 10.1007/s10048-024-00770-y

By:

De, Tiyasha;
Sharma, Pooja;
Upilli, Bharathram;
Vivekanand, A.;
Bari, Shreya;
Sonakar, Akhilesh Kumar;
Srivastava, Achal Kumar;
Faruq, Mohammed

Publication type:

Article

Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 337, doi. 10.1007/s10048-024-00769-5

By:

Cheng, Hong;
Zhao, Yingjie;
Hou, Xiaoli;
Ling, Fang;
Wang, Jing;
Wang, Yixia;
Cao, Yasen

Publication type:

Article

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 425, doi. 10.1007/s10048-024-00773-9

By:

Flannery, Kyle P.;
Safwat, Sylvia;
Matsell, Eli;
Battula, Namarata;
Hamed, Ahlam A. A.;
Mohamed, Inaam N.;
Elseed, Maha A.;
Koko, Mahmoud;
Abubaker, Rayan;
Abozar, Fatima;
Elsayed, Liena E. O.;
Bhise, Vikram;
Molday, Robert S.;
Salih, Mustafa A.;
Yahia, Ashraf;
Manzini, M. Chiara

Publication type:

Article

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 405, doi. 10.1007/s10048-024-00767-7

By:

Colijn, Mark Ainsley;
Vrijsen, Stephanie;
Au, Ping Yee Billie;
Abou El Asrar, Rania;
Houdou, Marine;
Van den Haute, Chris;
Sarna, Justyna;
Montgomery, Greg;
Vangheluwe, Peter

Publication type:

Article

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

Published in:

Neurogenetics, 2024, v. 25, n. 4, p. 487, doi. 10.1007/s10048-024-00761-z

By:

Kotioumbé, Mahamadou;
Maiga, Alassane B.;
Bamba, Salia;
Cissé, Lassana;
Diarra, Salimata;
Diallo, Salimata;
Yalcouyé, Abdoulaye;
Kané, Fousseyni;
Diallo, Seybou H.;
Coulibaly, Dramane;
Coulibaly, Thomas;
Dembélé, Kékouta;
Maiga, Boubacar;
Guinto, Cheick O.;
Landouré, Guida

Publication type:

Article