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

Results: 14

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
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
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
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
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
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
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
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
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