Neurogenetics

New developments in Neurogenetics and Neuroepigenetics.

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Showing 1-50 of 961 articles

Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
Taiwo Ooreoluwa Ojo
Oluwabamise Emmanuel Elegbeleye
Abdeen Tunde Ogunlana
Research 29 May 2024
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Saima
Amjad Khan
Stefan T. Arold
Original Article 25 May 2024
Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis
Lucas Cunha Barbosa
Gabriel Cardoso Machado
Valéria Pereira Ferrer
Research 22 May 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Wiktoria Radziwonik-Fraczyk
Ewelina Elert-Dobkowska
Anna Sulek
Research Open access 17 May 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Carlo Alberto Cesaroni
Gianluca Contrò
Carlo Fusco
Brief Communication 23 April 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Flavia Palombo
Alessandro Vaisfeld
Giovanni Rizzo
Short Communication 16 April 2024
The Apo gene's genetic variants: hidden role in Asian vascular risk
Valentinus Besin
Farizky Martriano Humardani
Matthew Justyn
Review 16 April 2024
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Afsaneh Bazgir
Mehdi Agha Gholizadeh
Masoud Garshasbi
Research 15 April 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi
Vittoria Aprea
Lucio Tremolizzo
Research Open access 09 April 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Marija Brankovic
Vukan Ivanovic
Stojan Peric
Original Article 19 March 2024
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Sokhna Haissatou Diaw
Sylvie Delcambre
Katja Lohmann
Original Article 18 March 2024 Pages: 141 - 147
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Federica Teutonico
Clara Volpe
Aglaia Vignoli
Brief Communication 18 March 2024
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Zhi-Jian Lin
Jun-Wei He
Peng-Xing Lin
Original Article 09 March 2024 Pages: 131 - 139
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
Ayberk Türkyılmaz
Safiye Güneş Sağer
Yasemin Akın
Original Article 22 February 2024 Pages: 119 - 130
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Pardis Najafi
Christian Reimer
Clemens Falker-Gieske
Original Article Open access 21 February 2024 Pages: 103 - 117
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Ettore Cioffi
Gianluca Coppola
Carlo Casali
Review Open access 09 February 2024 Pages: 51 - 67
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Sylvia Safwat
Kyle P. Flannery
M. Chiara Manzini
Original Article Open access 01 February 2024 Pages: 93 - 102
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Fumikazu Kojima
Yuji Okamoto
Hiroshi Takashima
Short Communication 29 January 2024 Pages: 149 - 156
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Namanpreet Kaur
Khyati Arora
Anju Shukla
Original Article 27 January 2024 Pages: 85 - 91
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Geraldine Zimmer-Bensch
Correction Open access 22 January 2024 Pages: 47 - 47
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Wejdan Hakami
Farah Thabet
Brahim Tabarki
Original Article 19 January 2024 Pages: 79 - 83
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Raffaele Falsaperla
Vincenzo Sortino
Xena Giada Pappalardo
Original Article 08 January 2024 Pages: 69 - 78
New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Geraldine Zimmer-Bensch
Editorial Open access 29 December 2023 Pages: 1 - 2
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
N. Gammaldi
S. Doccini
DEM-AGING Network
Short Communication 20 December 2023 Pages: 39 - 46
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Stéphane Abramowicz
Alexandre Dentel
Sara Touhami
Short Communication 18 December 2023 Pages: 33 - 38
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Wendi Huang
Ying Yang
Yujuan Zhao
Original Article 06 November 2023 Pages: 27 - 31
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
Nishu Tyagi
Bharathram Uppili
Mohammed Faruq
Original Article 02 November 2023 Pages: 13 - 25
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Shintaro Aoki
Kazuki Watanabe
Hirotomo Saitsu
Original Article 26 October 2023 Pages: 3 - 11
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao
Yuping Wang
Shujuan Tian
Retraction Note Open access 07 October 2023 Pages: 49 - 49
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Mahmoudreza Ashrafi
Reyhaneh Kameli
Ali Reza Tavasoli
Correction 05 September 2023 Pages: 317 - 318
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Tahereh Ghorashi
Hossein Darvish
Hossein Mozdarani
Original Article 05 September 2023 Pages: 311 - 316
Adult-onset Alexander disease among patients of Jewish Syrian descent
Saar Anis
Tsvia Fay-Karmon
Sharon Hassin-Baer
Original Article 02 September 2023 Pages: 303 - 310
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Edouard Palu
Julius Järvilehto
Emil Ylikallio
Original Article Open access 22 August 2023 Pages: 291 - 301
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Mahmoudreza Ashrafi
Reyhaneh Kameli
Ali Reza Tavasoli
Original Article 19 August 2023 Pages: 279 - 289
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde
Meike Steinbach
Gregor Kuhlenbäumer
Original Article Open access 17 August 2023 Pages: 273 - 278
Clinical and functional study of two de novo variations of CDKL5 gene
Yang You
Xinyi Men
Baoguang Li
Original Article 16 August 2023 Pages: 263 - 271
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
Nana Li
Hong Kang
Ping Yu
Original Article 31 July 2023 Pages: 251 - 262
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Zeyu Zhu
Wenzhe Hou
Li Cao
Original Article 19 July 2023 Pages: 243 - 250
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Lianghao Si
Zhanjun Wang
Chaodong Wang
Original Article 15 July 2023 Pages: 231 - 241
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
S. Skoczylas
P. Jakiel
A. Zmysłowska
Original Article Open access 05 July 2023 Pages: 221 - 229
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Sophie Hebestreit
Janine Schwahn
Jochen H. Weishaupt
Original Article Open access 21 June 2023 Pages: 209 - 213
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao
Yuping Wang
Shujuan Tian
Original Article Open access 08 June 2023 Pages: 201 - 208
Response to a letter to the editor
Jeanne Jury
Mathilde Nizon
Bertrand Isidor
Letter to Editor 01 June 2023 Pages: 219 - 219
COLQ-related congenital myasthenic syndrome: An integrative view
Tina Eshaghian
Bahareh Rabbani
Nejat Mahdieh
Original Article 25 May 2023 Pages: 189 - 200
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Mariana Santos
João Massano
Jorge Oliveira
Short Communication 24 May 2023 Pages: 215 - 218
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
Viviana Tritto
Federico Grilli
Paola Riva
Original Article Open access 05 May 2023 Pages: 181 - 188
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
Daniele Galatolo
Rosanna Trovato
Alessandra Tessa
Review 03 May 2023 Pages: 147 - 160
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Frederike L. Harms
Deike Weiss
Kerstin Kutsche
Original Article 11 April 2023 Pages: 171 - 180
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy
Zhi-Jian Lin
Bi-Xia Huang
Peng-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 Li
Penghui Liu
Fuxin Lin
Original Article 09 March 2023 Pages: 137 - 146

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