Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy Zhi-Jian LinBi-Xia HuangPeng-Xing Lin Original Article 06 April 2023 Pages: 161 - 169
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations Chunwang LiPenghui LiuFuxin Lin Original Article 09 March 2023 Pages: 137 - 146
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients Peiwei ZhaoQingjie MengXuelian He Original Article 21 February 2023 Pages: 129 - 136
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families Haseena SaitSomya SrivastavaAmita Moirangthem Original Article 15 February 2023 Pages: 113 - 127
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB Alice AbdelAleemNaim HaddadAhmed Elsotouhy Original Article Open access 13 February 2023 Pages: 103 - 112
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome Xiangyue ZhaoTingting YuJian Wang Original Article 09 February 2023 Pages: 95 - 101
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms Laura HecherFrederike L. HarmsKerstin Kutsche Original Article 19 January 2023 Pages: 79 - 93
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT Seyedeh Atiyeh AfjeiMohammad Farid MohammadiMorteza Heidari Original Article 12 January 2023 Pages: 67 - 78
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India Saraswati NashiKiran PolavarapuAtchayaram Nalini Original Article 29 December 2022 Pages: 43 - 53
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior Clemens Falker-GieskeJörn BennewitzJens Tetens Original Article Open access 30 November 2022 Pages: 29 - 41
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia Tal GilboaNaama ElefantNuphar Hacohen Short Communication 29 November 2022 Pages: 61 - 66
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients Miral M. RefeatWalaa El NaggarAyman Kilany Original Article Open access 26 November 2022 Pages: 17 - 28
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia M. JuhosováJ. ChandogaJ. Štofko Original Article 19 November 2022 Pages: 1 - 16
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia Misbahuddin M. RafeeqMuhammad UmairRaja Hussain Ali Short Communication 03 October 2022 Pages: 55 - 60
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review Natalia Acosta-BaenaJohanna Alexandra Tejada-MorenoCarlos Andrés Villegas-Lanau Review Open access 04 November 2022 Pages: 231 - 240
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation Miguel Tábuas-PereiraRita GuerreiroIsabel Santana Short Communication 17 September 2022 Pages: 279 - 283
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation Mustafa JaffrySoumya BouchachiNizar Souayah Short Communication 16 August 2022 Pages: 275 - 277
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders Amytice MirchiAlexa DerksenGeneviève Bernard Short Communication 03 August 2022 Pages: 271 - 274
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation Marwa MaalejLamia SfaihiFaiza Fakhfakh Original Article 11 July 2022 Pages: 257 - 270
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET Armand HocquelJean-Marie RavelMathilde Renaud Original Article 05 July 2022 Pages: 241 - 255
Genetic analysis of 18 families with tuberous sclerosis complex Kaili YinNan LinXue Zhang Original Article 21 May 2022 Pages: 223 - 230
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease Taner KarakayaAyberk TurkyilmazYasemin Akin Original Article 13 May 2022 Pages: 213 - 221
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder Asmat UllahJai KrishinSulman Basit Original Article 23 April 2022 Pages: 203 - 212
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C Mainak BardhanRam Murthy AnjanappaAtchayaram Nalini Original Article 13 April 2022 Pages: 187 - 202
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment Hélio A. G. TeiveCarlos Henrique F. CamargoRenato P. Munhoz Review Article 09 April 2022 Pages: 167 - 177
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability Dengna ZhuMingmei WangZuozhen Yang Original Article 07 April 2022 Pages: 179 - 185
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort Nasna NassirIsra SatiAmmar Albanna Original Article 24 March 2022 Pages: 137 - 149
Experiences in the molecular genetic and histopathological evaluation of calpainopathies Berk OzyilmazOzgur KirbiyikGulden Diniz Original Article 14 February 2022 Pages: 103 - 114
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation Sachiko MiyamotoMitsuko NakashimaHirotomo Saitsu Original Article 11 February 2022 Pages: 129 - 135
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series Anthony CheungCatherine ArgyriouNancy Braverman Original Article 02 February 2022 Pages: 115 - 127
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration Julia MacintoshAlexa DerksenGeneviève Bernard Short Communication 31 January 2022 Pages: 151 - 156
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations Steffi ThustLiana VenezianoPaola Giunti Original Article Open access 25 January 2022 Pages: 91 - 102
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature Eliane ChoueryCybel MehawejAndre Megarbane Original Article 18 January 2022 Pages: 85 - 90
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review Salvatore IaconoElda Del GiudiceRossella Spataro Short Communication 10 January 2022 Pages: 157 - 165
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center Kun HuangQiu-Xiang LiHuan Yang Original Article 04 January 2022 Pages: 37 - 44
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant Ivana DzinovicTereza SerranováMichael Zech Correction 03 December 2021 Pages: 77 - 77
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype Maria Rosário AlmeidaInês EliasGustavo Santo Original Article 01 December 2021 Pages: 1 - 9
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Berardo RinaldiYu‑Han GeDonatella Milani Correction Open access 27 November 2021 Pages: 81 - 81
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer K. ŠtěrbováM. VlčkováP. Laššuthová Letter to Editor 27 November 2021 Pages: 67 - 68
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants J. Finsterer Letter to Editor 15 November 2021 Pages: 73 - 74
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia Eva LópezCarlos CasasnovasVíctor Volpini Correction 10 November 2021 Pages: 79 - 79
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study Ji-You MinSeo-Jin ParkSung-Hee Han Original Article 06 November 2021 Pages: 45 - 58
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Berardo RinaldiYu-Han GeDonatella Milani Original Article Open access 03 November 2021 Pages: 27 - 35
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype Hongzhu ChenNiu LiLin Yang Original Article 30 October 2021 Pages: 11 - 17
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes Raffaella BrugnoniEleonora CanioniLorenzo Maggi Original Article 05 October 2021 Pages: 19 - 25
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer’s disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages Masaki IkedaKoichi OkamotoYoshio Ikeda Letter to Editor 02 October 2021 Pages: 69 - 71
Correction to: Increased unfolded protein responses caused by MED17 mutations Takeshi TerabayashiSatoru Hashimoto Correction 13 September 2021 Pages: 75 - 76
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees David BrennerKathrin MüllerJochen H. Weishaupt Original Article Open access 13 September 2021 Pages: 59 - 65