Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy Arastoo KakiMaedeh GanjiAli Reza Tavasoli Research 14 June 2025 Article: 49
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities Akansha PalFalguni GoelVipin Kumar Garg Review 06 June 2025 Article: 48
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis Aslihan KirazMurat ErdoganMunis Dundar Research 31 May 2025 Article: 47
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population Pinar Ozkan KartOguzhan DemirAli Cansu Research 27 May 2025 Article: 46
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family Bin WangBin WeiMiao Sun Research 26 May 2025 Article: 45
Identification of mutations in five Pakistani families with Epilepsy Nayab AhsanArsalan AhmadMuhammad Jawad Hassan Research 19 May 2025 Article: 44
Genetic variants associated with idiopathic Parkinson’s disease in Latin America: A systematic review Felipe Duarte-ZambranoDavid Felipe Alfonso-CedeñoHumberto Arboleda Review Open access 03 April 2025 Article: 43
The association of SCN1A polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis Ida MohammadiShahryar Rajai FirouzabadiBehnam Safarpour Lima Review 03 April 2025 Article: 42
A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome Anna MazninaDaria Molodtsova-ZolotukhinaPavel Y. Volchkov Research 03 April 2025 Article: 41
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024 Riaz AhmadMuhammad Naeem Review 03 April 2025 Article: 40
Multi-target approach to Alzheimer’s disease prevention and treatment: antioxidant, anti-inflammatory, and amyloid- modulating mechanisms Kashif AbbasMohd MustafaNazura Usmani Review 01 April 2025 Article: 39
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up Sebastian SkoczylasTomasz PłoszajAgnieszka Zmysłowska Research 26 March 2025 Article: 38
Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22 Honami KawaiYoichiro NishidaTakanori Yokota Brief Communication Open access 24 March 2025 Article: 37
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations Baoguang LiZhenzhen QuWeiping Wang Research 18 March 2025 Article: 36
A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family Alassane Baneye MaigaAbdoulaye AramaGuida Landouré Brief Communication 11 March 2025 Article: 35
Investigating the gut microbiome in schizophrenia cases versus controls: South Africa’s version Carlien RustLaila AsmalSian Hemmings Research Open access 05 March 2025 Article: 34
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency Rojan İpekAkçahan AkalınAyfer Gözü Pirinççioğlu Research 27 February 2025 Article: 33
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP Sara ScacciniCarlo Alberto CesaroniCarlo Fusco Research 24 February 2025 Article: 32
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses Mitesh PatelReem BinsuwaidanMohd Adnan Research 20 February 2025 Article: 31
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review Ehab Y. HarahshehLauren E. MoxleyMayowa Osundiji Review 17 February 2025 Article: 30
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report Rachda RiffiWefa BoughraraAmina Chentouf Research 15 February 2025 Article: 29
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms Juliana Cordovil CotrinRafael Mina PiergiorgeCíntia Barros Santos-Rebouças Research 15 February 2025 Article: 28
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer’s disease Arghavan HosseinpouriKhadijeh SadeghReza Karbalaei Research 10 February 2025 Article: 27
Retraction Note: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China Yinglin ZhaoShaoxiong ZhengQingjun Huang Retraction Note 06 February 2025 Article: 26
Genetic and expressional insights into the association of TRAPPC10 variants with neurodevelopmental disorders Peng-Yu WangWen-Hui LiuSheng Luo Comment 01 February 2025 Article: 25
Correction to: Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy Zhi-Jian LinJun-Wei HePeng-Xing Lin Correction 28 January 2025 Article: 24
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families Busra AynekinSinan AkbaşHuseyin Per Research 24 January 2025 Article: 23
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders Zainab I. BahdarEjlal Abu-El-RubRaed M. Al-Zoubi Review Open access 24 January 2025 Article: 22
Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates Omkar Kumar KunwarShamsher Singh Review 17 January 2025 Article: 21
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties Gustavo Maximiano-AlvesRenata do Amaral Moreto CaravelasPedro José Tomaselli Brief Communication 15 January 2025 Article: 20
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS) Suzanna EdgarNurul Angelyn Zulhairy-LiongAzlina Ahmad-Annuar Research 13 January 2025 Article: 19
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia Amena Khatun ManicaMariam Omowunmi DaudSherif Olabisi Ogunyemi Research 07 January 2025 Article: 18
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss Mengyi LuKai ZhouLingbo Li Brief Communication 07 January 2025 Article: 17
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype Emine KaratasAyten GulecMunis Dundar Brief Communication 26 December 2024 Article: 16
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases Jingjing ZhangXin ZhangXiaobin Peng Research 06 December 2024 Article: 15
Neurodegeneration with brain iron accumulation 5: report of three cases Sheyda KhalilianMohadeseh FathiSoudeh Ghafouri-Fard Research 04 December 2024 Article: 14
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing Bao-Guang LiWen-Juan WuSu-Zhen Sun Research Open access 28 November 2024 Article: 13
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69 Zahra SadrAida GhasemiAfagh Alavi Research 28 November 2024 Article: 12
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation Bita PoorshiriNeda JabbarpourZakiyeh Ebadi Brief Communication 27 November 2024 Article: 11
Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health Atifa WaheedMaliha GhaffarHina Naz Review 26 November 2024 Article: 10
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome Aida GhasemiSeyed Jalaleddin HadeiShahriar Nafissi Research 26 November 2024 Article: 9
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 Betul AkcesmeNadia IslamNejla Basovic Research 26 November 2024 Article: 8
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum Hu PanMei HeZhen Liu Research 26 November 2024 Article: 7
Understanding pathophysiology in fragile X syndrome: a comprehensive review Juan Carlos Castillo JuárezAlejandro Aguilar GómezGabriel Silva Arévalo Review 25 November 2024 Article: 6
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine Vijeta PrakashReema Gabrani Review 25 November 2024 Article: 5
Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene Mariia A. ParfenenkoIlya S. DantsevVictoria Iu. Voinova Research 22 November 2024 Article: 4
DHDDS-related epilepsy with hippocampal atrophy: a case report Álvaro de Oliveira FrancoMatheus Bernardon MorillosCarolina Machado Torres Brief Communication 22 November 2024 Article: 3
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants Lena Sagi-DainAnnemieke Aartsma-RusAmihood Singer Research 20 November 2024 Article: 2
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family Ahoura NozariParia BabaahmadiMahdieh Hasani Research 19 November 2024 Article: 1
RETRACTED ARTICLE: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China Yinglin ZhaoShaoxiong ZhengQingjun Huang Research 21 October 2024 Pages: 481 - 486