Articles

1. 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

   

2. 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

   

3. Two more families supporting the existence of monogenic spinocerebellar ataxia 48

   • Flavia Palombo
   • Alessandro Vaisfeld
   • Giovanni Rizzo

   Short Communication 16 April 2024

   

4. The Apo gene's genetic variants: hidden role in Asian vascular risk

   • Valentinus Besin
   • Farizky Martriano Humardani
   • Matthew Justyn

   Review 16 April 2024

   

5. 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

   

6. 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

   

7. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia

   • Marija Brankovic
   • Vukan Ivanovic
   • Stojan Peric

   Original Article 19 March 2024

8. 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

   

9. 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

   

10. 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

    

11. 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

12. 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

    

13. 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

    

14. 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

    

15. 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

    

16. 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

    

17. 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

18. Bi-allelic variants in HCRT cause autosomal recessive narcolepsy

    • Wejdan Hakami
    • Farah Thabet
    • Brahim Tabarki

    Original Article 19 January 2024 Pages: 79 - 83

    

19. 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

    

20. 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

21. 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

    

22. 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

    

23. 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

    

24. 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

    

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

    

26. 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

27. 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

28. 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

    

29. 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

    

30. 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

    

31. 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

    

32. 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

    

33. 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

    

34. 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

    

35. 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

    

36. 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

    

37. 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

    

38. 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

    

39. 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

    

40. Response to a letter to the editor

    • Jeanne Jury
    • Mathilde Nizon
    • Bertrand Isidor

    Letter to Editor 01 June 2023 Pages: 219 - 219

41. COLQ-related congenital myasthenic syndrome: An integrative view

    • Tina Eshaghian
    • Bahareh Rabbani
    • Nejat Mahdieh

    Original Article 25 May 2023 Pages: 189 - 200

    

42. 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

    

43. 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

    

44. 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

    

45. 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

    

46. 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

    

47. 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

    

48. Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients

    • Peiwei Zhao
    • Qingjie Meng
    • Xuelian He

    Original Article 21 February 2023 Pages: 129 - 136

    

49. Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families

    • Haseena Sait
    • Somya Srivastava
    • Amita Moirangthem

    Original Article 15 February 2023 Pages: 113 - 127

    

50. Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB

    • Alice AbdelAleem
    • Naim Haddad
    • Ahmed Elsotouhy

    Original Article Open access 13 February 2023 Pages: 103 - 112