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

Results: 28

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
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
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
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
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
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
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
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