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Items: 1 to 20 of 179

1.
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing
Bao-Guang Li, Wen-Juan Wu, Li-Hui Wang, Xin Wang, Chong Liu, Ya-Kun Du, Bao-Chi Li, Jin-Tong Hu, Su-Zhen Sun
Neurogenetics. 2025; 26(1): 13. Published online 2024 Nov 28. doi: 10.1007/s10048-024-00782-8
PMCID:
PMC11634931
ArticlePDF–2.0M
2.
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, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sulek
Neurogenetics. 2024; 25(3): 233–247. Published online 2024 May 17. doi: 10.1007/s10048-024-00762-y
PMCID:
PMC11249508
ArticlePDF–722K
3.
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, Francesca Lattuada, Cinzia Crivellaro, Francesca Bertola, Veronica Castelnovo, Elisa Canu, Massimo Filippi, Ildebrando Appollonio, Carlo Ferrarese, Federica Agosta, Lucio Tremolizzo
Neurogenetics. 2024; 25(3): 215–223. Published online 2024 Apr 9. doi: 10.1007/s10048-024-00756-w
PMCID:
PMC11249401
ArticlePDF–988K
4.
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Pardis Najafi, Christian Reimer, Jonathan D. Gilthorpe, Kirsten R. Jacobsen, Maja Ramløse, Nora-Fabienne Paul, Henner Simianer, Jens Tetens, Clemens Falker-Gieske
Neurogenetics. 2024; 25(2): 103–117. Published online 2024 Feb 21. doi: 10.1007/s10048-024-00750-2
PMCID:
PMC11076379
ArticlePDF–1.7M
5.
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9
PMCID:
PMC11076336
ArticlePDF–1.1M
6.
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Geraldine Zimmer-Bensch
Neurogenetics. 2024; 25(1): 47. Published online 2024 Jan 22. doi: 10.1007/s10048-024-00747-x
Corrects:
Neurogenetics. 2024; 25(1): 1–2.
PMCID:
PMC10890974
CorrectionPDF–424K
7.
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2024; 25(1): 49. Published online 2023 Oct 7. doi: 10.1007/s10048-023-00735-7
Retracts:
Neurogenetics. 2023; 24(3): 201–208.
PMCID:
PMC10891255
RetractionPDF–413K
8.
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio
Neurogenetics. 2023; 24(4): 291–301. Published online 2023 Aug 22. doi: 10.1007/s10048-023-00729-5
PMCID:
PMC10545620
ArticlePDF–881K
9.
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
Neurogenetics. 2023; 24(4): 273–278. Published online 2023 Aug 17. doi: 10.1007/s10048-023-00728-6
PMCID:
PMC10545561
ArticlePDF–630K
10.
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
Neurogenetics. 2023; 24(2): 103–112. Published online 2023 Feb 13. doi: 10.1007/s10048-023-00710-2
PMCID:
PMC10063482
ArticlePDF–3.5M
11.
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications and neurodegeneration
Julia Macintosh, Alexa Derksen, Chantal Poulin, Nancy Braverman, Adeline Vanderver, Isabelle Thiffault, Steffen Albrecht, Geneviève Bernard
Neurogenetics. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Neurogenetics. 2022 Apr; 23(2): 151–156. Published online 2022 Jan 31. doi: 10.1007/s10048-022-00683-8
PMCID:
PMC9289721
ArticlePDF–769K
12.
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti
Neurogenetics. 2022; 23(2): 91–102. Published online 2022 Jan 25. doi: 10.1007/s10048-021-00680-3
PMCID:
PMC8960566
ArticlePDF–1.1M
13.
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Berardo Rinaldi, Yu-Han Ge, Elena Freri, Arianna Tucci, Tiziana Granata, Margherita Estienne, Jia-Hui Sun, Bénédicte Gérard, Allan Bayat, Stephanie Efthymiou, Cristina Gervasini, Yun Stone Shi, Henry Houlden, Paola Marchisio, Donatella Milani
Neurogenetics. 2022; 23(1): 27–35. Published online 2021 Nov 3. doi: 10.1007/s10048-021-00666-1
Correction in:
Neurogenetics. 2022; 23(1): 81.
PMCID:
PMC8782781
ArticlePDF–1.3M
14.
Milestones in genetics of cerebellar ataxias
Magdalena Krygier, Maria Mazurkiewicz-Bełdzińska
Neurogenetics. 2021; 22(4): 225–234. Published online 2021 Jul 5. doi: 10.1007/s10048-021-00656-3
PMCID:
PMC8426223
ArticlePDF–723K
15.
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Katja Kloth, Bernarda Lozic, Julia Tagoe, Mariëtte J. V. Hoffer, Amelie Van der Ven, Holger Thiele, Janine Altmüller, Christian Kubisch, Ping Yee Billie Au, Jonas Denecke, Emilia K. Bijlsma, Davor Lessel
Neurogenetics. 2021; 22(4): 263–269. Published online 2021 Jul 3. doi: 10.1007/s10048-021-00655-4
PMCID:
PMC8426245
ArticlePDF–707K
16.
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases
Fay AJ, McMahon T, Im C, Bair-Marshall C, Niesner KJ, Li H, Nelson A, Voglmaier SM, Fu Y-H, Ptáček LJ
Neurogenetics. 2021; 22(3): 171–185. Published online 2021 Jun 8. doi: 10.1007/s10048-021-00645-6
PMCID:
PMC8241743
ArticlePDF–1.8M
17.
Does genetic anticipation occur in familial Alexander disease?
Camille K. Hunt, Ahmad Al Khleifat, Ella Burchill, Joerg Ederle, Ammar Al-Chalabi, Jemeen Sreedharan
Neurogenetics. 2021; 22(3): 215–219. Published online 2021 May 28. doi: 10.1007/s10048-021-00642-9
PMCID:
PMC8241638
ArticlePDF–863K
18.
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Ali S. Shalash, Thomas W. Rösler, Mohamed Salama, Manuela Pendziwiat, Stefanie H. Müller, Franziska Hopfner, Günter U. Höglinger, Gregor Kuhlenbäumer
Neurogenetics. 2021; 22(2): 143–147. Published online 2021 Mar 29. doi: 10.1007/s10048-021-00639-4
PMCID:
PMC8119284
ArticlePDF–2.6M
19.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal Loureiro, Cyril Goizet, Alexandra Durr, Martin Paucar, Giovanni Stevanin
Neurogenetics. 2021; 22(1): 71–79. Published online 2021 Jan 23. doi: 10.1007/s10048-020-00633-2
PMCID:
PMC7997841
ArticlePDF–787K
20.
Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency
Matthias Amprosi, Michael Zech, Ruth Steiger, Wolfgang Nachbauer, Andreas Eigentler, Elke R. Gizewski, Michael Guger, Elisabetta Indelicato, Sylvia Boesch
Neurogenetics. 2021; 22(1): 81–86. Published online 2020 Aug 24. doi: 10.1007/s10048-020-00624-3
PMCID:
PMC7997836
ArticlePDF–605K

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