Works matching IS 13646745 AND DT 2025 AND VI 26 AND IP 1

Results: 45

The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00823-w

By:

Mohammadi, Ida;
Rajai Firouzabadi, Shahryar;
Aarabi, Aryan;
Sadraei, Samin;
Saadati, Aidin;
Mohammad Soltani, Sana;
Safarpour Lima, Behnam

Publication type:

Article

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00822-x

By:

Maznina, Anna;
Molodtsova-Zolotukhina, Daria;
Andreeva, Nina;
Esibov, Anton;
Bostanova, Fatima M.;
Sharkov, Artem;
Doroshchuk, Natalya A.;
Sagaydak, Olesya V.;
Groznova, Olga S.;
Woroncow, Mary;
Bogdanov, Viktor P.;
Volchkov, Pavel Y.

Publication type:

Article

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00819-6

By:

Ahmad, Riaz;
Naeem, Muhammad

Publication type:

Article

Multi-target approach to Alzheimer's disease prevention and treatment: antioxidant, anti-inflammatory, and amyloid- modulating mechanisms.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00821-y

By:

Abbas, Kashif;
Mustafa, Mohd;
Alam, Mudassir;
Habib, Safia;
Ahmad, Waleem;
Adnan, Mohd;
Hassan, Md. Imtaiyaz;
Usmani, Nazura

Publication type:

Article

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00813-y

By:

İpek, Rojan;
Akalın, Akçahan;
Habiloğlu, Esra;
Hattapoğlu, Salih;
Pirinççioğlu, Ayfer Gözü

Publication type:

Article

Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00808-9

By:

Kawai, Honami;
Nishida, Yoichiro;
Kanda, Takashi;
Yokota, Takanori

Publication type:

Article

Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00818-7

By:

Li, Baoguang;
Qu, Zhenzhen;
Wu, Wenjuan;
Wang, Weiping

Publication type:

Article

Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00812-z

By:

Patel, Mitesh;
Binsuwaidan, Reem;
Surti, Malvi;
Alshammari, Nawaf;
Ibrahim, Angum M. M.;
Adnan, Mohd

Publication type:

Article

Investigating the gut microbiome in schizophrenia cases versus controls: South Africa's version.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00816-9

By:

Rust, Carlien;
Asmal, Laila;
O'Hare, Michaela;
Pretorius, Etheresia;
Emsley, Robin;
Seedat, Soraya;
Hemmings, Sian

Publication type:

Article

Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00820-z

By:

Skoczylas, Sebastian;
Płoszaj, Tomasz;
Gadzalska, Karolina;
Gorządek, Monika;
Jakiel, Paulina;
Juścińska, Ewa;
Malarska, Maria;
Traczyk-Borszyńska, Magdalena;
Biezynska, Hanna;
Rychlik, Magdalena;
Pastorczak, Agata;
Zmysłowska, Agnieszka

Publication type:

Article

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00815-w

By:

Scaccini, Sara;
Cesaroni, Carlo Alberto;
Caraffi, Stefano Giuseppe;
Rizzi, Susanna;
Rosato, Simonetta;
Peluso, Francesca;
Spagnoli, Carlotta;
Cavalli, Anna;
Brugnoli, Chiara;
Scandolo, Giulia;
Pantani, Agnese;
Ivanovski, Ivan;
Garavelli, Livia;
Frattini, Daniele;
Fusco, Carlo

Publication type:

Article

ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00798-0

By:

Edgar, Suzanna;
Zulhairy-Liong, Nurul Angelyn;
Ellis, Melina;
Trivedi, Shuchi;
Zhu, Danqing;
Odongo, Jeffrey Ochieng;
Goh, Khean-Jin;
Capelle, David Paul;
Shahrizaila, Nortina;
Kennerson, Marina L.;
Ahmad-Annuar, Azlina

Publication type:

Article

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00814-x

By:

Maiga, Alassane Baneye;
Arama, Abdoulaye;
Yalcouyé, Abdoulaye;
Albakaye, Mohamed;
Weizhen, Ji;
Bamba, Salia;
Traoré, Oumou;
Sangaré, Moussa;
Kotioumbé, Mahamadou;
Djimdé, Samba Ogomaly;
Goita, Modibo K.;
Diarra, Salimata;
Khokha, Mustafa K.;
Lakhani, Saquib A.;
Landouré, Guida

Publication type:

Article

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00810-1

By:

Cotrin, Juliana Cordovil;
Piergiorge, Rafael Mina;
Gonçalves, Andressa Pereira;
Spitz, Mariana;
Gerber, Alexandra Lehmkuhl;
Guimarães, Ana Paula de Campos;
Vasconcelos, Ana Tereza Ribeiro;
Santos-Rebouças, Cíntia Barros

Publication type:

Article

ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00807-w

By:

Riffi, Rachda;
Boughrara, Wefa;
Aberkane, Meriem Samia;
Ilias, Wassila;
Bouchetara, Mohamed Sofiane;
Berrebbah, Amel Alioua;
Belhoucine, Fatma;
Chentouf, Amina

Publication type:

Article

Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer's disease.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00806-x

By:

Hosseinpouri, Arghavan;
Sadegh, Khadijeh;
Zarei-Behjani, Zeinab;
Dehghan, Zeinab;
Karbalaei, Reza

Publication type:

Article

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

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00809-8

By:

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

Publication type:

Article

20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00811-0

By:

Harahsheh, Ehab Y.;
Moxley, Lauren E.;
Al-Amin, Matu;
Sabrowsky, Sonia;
Deniz, Adnan;
Osundiji, Mayowa

Publication type:

Article

Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00804-z

By:

Wang, Peng-Yu;
Liu, Wen-Hui;
Gu, Yu-Jie;
Luo, Sheng

Publication type:

Article

The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00803-0

By:

Bahdar, Zainab I.;
Abu-El-Rub, Ejlal;
Almazari, Rawan;
Alzu'bi, Ayman;
Al-Zoubi, Raed M.

Publication type:

Article

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00799-7

By:

Aynekin, Busra;
Akbaş, Sinan;
Gulec, Ayten;
Gumus, Ummu Gulsum Ozgul;
Guner, Abdullah Emre;
Efthymiou, Stephanie;
Houlden, Henry;
Sayın, Gözde Yesil;
Per, Huseyin

Publication type:

Article

Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00801-2

By:

Kunwar, Omkar Kumar;
Singh, Shamsher

Publication type:

Article

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-025-00800-3

By:

Maximiano-Alves, Gustavo;
do Amaral Moreto Caravelas, Renata;
Gonçalves, Trajano Aguiar Pires;
Corniani, Kelvin Ferrari;
Nather, Júlio Cesar;
Geraldi-Tomaselli¹, Camila Vasconcelos;
Frezatti, Rodrigo Siqueira Soares;
Fernandes, Regina Maria França;
dos Santos, Antônio Carlos;
Marques, Wilson;
Tomaselli, Pedro José

Publication type:

Article

Correction to: Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.

Published in:

2025

By:

Lin, Zhi-Jian;
He, Jun-Wei;
Zhu, Sheng-Yin;
Xue, Li-Hong;
Zheng, Jian-Feng;
Zheng, Li-Qin;
Huang, Bi-Xia;
Chen, Guo-Zhang;
Lin, Peng-Xing

Publication type:

Correction Notice

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00797-1

By:

Lu, Mengyi;
Zhou, Kai;
Yang, Xiuyun;
Lin, Lin;
Lu, Lixiang;
Qin, Yujie;
Zhou, Ni;
Li, Lingbo

Publication type:

Article

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00797-1

By:

Lu, Mengyi;
Zhou, Kai;
Yang, Xiuyun;
Lin, Lin;
Lu, Lixiang;
Qin, Yujie;
Zhou, Ni;
Li, Lingbo

Publication type:

Article

Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00796-2

By:

Manica, Amena Khatun;
Daud, Mariam Omowunmi;
Faloyo, Michael Olanrewaju;
Akinwunmi, Afuape Raphael;
Adekunle, Aminat Motunrayo;
Adekola, Aminat Adedolapo;
Lawal, Ilyas Adisa;
Salawu, Musiliyu Ayofe;
Muritala, Jamiu Adewole;
Muraina, Ridwan Olajire;
Hassan, Rukayat Abiodun;
Ogunyemi, Sherif Olabisi

Publication type:

Article

Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00796-2

By:

Manica, Amena Khatun;
Daud, Mariam Omowunmi;
Faloyo, Michael Olanrewaju;
Akinwunmi, Afuape Raphael;
Adekunle, Aminat Motunrayo;
Adekola, Aminat Adedolapo;
Lawal, Ilyas Adisa;
Salawu, Musiliyu Ayofe;
Muritala, Jamiu Adewole;
Muraina, Ridwan Olajire;
Hassan, Rukayat Abiodun;
Ogunyemi, Sherif Olabisi

Publication type:

Article

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00795-3

By:

Karatas, Emine;
Gulec, Ayten;
Korkmaz, Maide;
Karaman, Zehra Filiz;
Kiraz, Aslihan;
Per, Huseyin;
Dundar, Munis

Publication type:

Article

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00795-3

By:

Karatas, Emine;
Gulec, Ayten;
Korkmaz, Maide;
Karaman, Zehra Filiz;
Kiraz, Aslihan;
Per, Huseyin;
Dundar, Munis

Publication type:

Article

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00782-8

By:

Li, Bao-Guang;
Wu, Wen-Juan;
Wang, Li-Hui;
Wang, Xin;
Liu, Chong;
Du, Ya-Kun;
Li, Bao-Chi;
Hu, Jin-Tong;
Sun, Su-Zhen

Publication type:

Article

Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00792-6

By:

Zhang, Jingjing;
Zhang, Xin;
Xiao, Boan;
Ouyang, Jiecai;
Wang, Peng;
Peng, Xiaobin

Publication type:

Article

Neurodegeneration with brain iron accumulation 5: report of three cases.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00783-7

By:

Khalilian, Sheyda;
Fathi, Mohadeseh;
Ghahghaei-Nezamabadi, Akram;
Miryounesi, Mohammad;
Ghafouri-Fard, Soudeh

Publication type:

Article

Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00791-7

By:

Waheed, Atifa;
Ghaffar, Maliha;
Mustafa, Samavia;
Abbas, Anam;
Khan, Sana;
Waheed, Ahmad;
Naz, Hina

Publication type:

Article

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00790-8

By:

Poorshiri, Bita;
Jabbarpour, Neda;
Barzegar, Mohammad;
Bonyadi, Mortaza;
Ebadi, Zakiyeh

Publication type:

Article

Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00789-1

By:

Sadr, Zahra;
Ghasemi, Aida;
Rohani, Mohammad;
Khorram Khorshid, Hamid Reza;
Habibi-Kavashkohie, Mohammad Reza;
Mohammadi, Yusuf;
Alavi, Afagh

Publication type:

Article

Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00787-3

By:

Ghasemi, Aida;
Hadei, Seyed Jalaleddin;
KamaliZonouzi, Sara;
Shahrokhi, Amene;
Najmabadi, Hossein;
Nafissi, Shahriar

Publication type:

Article

Analysis of Alzheimer’s disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00786-4

By:

Akcesme, Betul;
Islam, Nadia;
Lekic, Delila;
Cutuk, Raisa;
Basovic, Nejla

Publication type:

Article

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00784-6

By:

Pan, Hu;
He, Mei;
Luo, Xuan;
Hu, Juanli;
Mao, Xiao;
Cheng, Yong;
Liu, Zhen

Publication type:

Article

DHDDS-related epilepsy with hippocampal atrophy: a case report.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00780-w

By:

de Oliveira Franco, Álvaro;
Morillos, Matheus Bernardon;
Bravo Leite, Martim Tobias;
Bianchin, Marino Muxfeldt;
Torres, Carolina Machado

Publication type:

Article

Understanding pathophysiology in fragile X syndrome: a comprehensive review.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00794-4

By:

Juárez, Juan Carlos Castillo;
Gómez, Alejandro Aguilar;
Díaz, Adrian Esteban Salatino;
Arévalo, Gabriel Silva

Publication type:

Article

Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00793-5

By:

Prakash, Vijeta;
Gabrani, Reema

Publication type:

Article

Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00781-9

By:

Parfenenko, Mariia A.;
Dantsev, Ilya S.;
Bochenkov, Sergei V.;
Kuramagomedova, Rabiat G.;
Vinogradova, Natalia V.;
Afanaseva, Mariia P.;
Groznova, Olga S.;
Voinova, Victoria Iu.

Publication type:

Article

Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00788-2

By:

Sagi-Dain, Lena;
Aartsma-Rus, Annemieke;
Echar, Moran;
Grinshpun-Cohen, Julia;
Singer, Amihood

Publication type:

Article

Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.

Published in:

Neurogenetics, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10048-024-00785-5

By:

Nozari, Ahoura;
Babaahmadi, Paria;
Jalilian, Narges;
Sadeghi, Taha;
Hasani, Mahdieh

Publication type:

Article