Works matching IS 13646745 AND DT 2024 AND VI 25 AND IP 2

Results: 10

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 149, doi. 10.1007/s10048-024-00746-y

By:

Kojima, Fumikazu;
Okamoto, Yuji;
Ando, Masahiro;
Higuchi, Yujiro;
Hobara, Takahiro;
Yuan, Junhui;
Yoshimura, Akiko;
Hashiguchi, Akihiro;
Matsuura, Eiji;
Takashima, Hiroshi

Publication type:

Article

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 119, doi. 10.1007/s10048-024-00751-1

By:

Türkyılmaz, Ayberk;
Sağer, Safiye Güneş;
Tekin, Emine;
Teralı, Kerem;
Düzkalır, Hanife;
Eser, Metin;
Akın, Yasemin

Publication type:

Article

Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 103, doi. 10.1007/s10048-024-00750-2

By:

Najafi, Pardis;
Reimer, Christian;
Gilthorpe, Jonathan D.;
Jacobsen, Kirsten R.;
Ramløse, Maja;
Paul, Nora-Fabienne;
Simianer, Henner;
Tetens, Jens;
Falker-Gieske, Clemens

Publication type:

Article

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 51, doi. 10.1007/s10048-024-00749-9

By:

Cioffi, Ettore;
Coppola, Gianluca;
Musumeci, Olimpia;
Gallone, Salvatore;
Silvestri, Gabriella;
Rossi, Salvatore;
Piemonte, Fiorella;
D'Amico, Jessica;
Tessa, Alessandra;
Santorelli, Filippo Maria;
Casali, Carlo

Publication type:

Article

Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 131, doi. 10.1007/s10048-024-00748-w

By:

Lin, Zhi-Jian;
He, Jun-Wei;
Zhu, Sheng-Yin;
Xue, Li-Hong;
Zheng, Jian-Feng;
Zheng, Li-Qin;
Huang, Bi-Xia;
Chen, Guo-Zhang;
Lin, Peng-Xing

Publication type:

Article

DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 141, doi. 10.1007/s10048-024-00752-0

By:

Diaw, Sokhna Haissatou;
Delcambre, Sylvie;
Much, Christoph;
Ott, Fabian;
Kostic, Vladimir S.;
Gajos, Agata;
Münchau, Alexander;
Zittel, Simone;
Busch, Hauke;
Grünewald, Anne;
Klein, Christine;
Lohmann, Katja

Publication type:

Article

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 93, doi. 10.1007/s10048-024-00745-z

By:

Safwat, Sylvia;
Flannery, Kyle P.;
El Beheiry, Ahmed A.;
Mokhtar, Mohamed M.;
Abdalla, Ebtesam;
Manzini, M. Chiara

Publication type:

Article

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 79, doi. 10.1007/s10048-024-00744-0

By:

Hakami, Wejdan;
Thabet, Farah;
Alhashem, Amal;
Alghamdi, Abdulaziz;
Alshahwan, Saad;
Alkuraya, Fowzan S.;
Tabarki, Brahim

Publication type:

Article

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 85, doi. 10.1007/s10048-024-00743-1

By:

Kaur, Namanpreet;
Arora, Khyati;
Radhakrishnan, Periyasamy;
Narayanan, Dhanya Lakshmi;
Shukla, Anju

Publication type:

Article

GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 69, doi. 10.1007/s10048-023-00742-8

By:

Falsaperla, Raffaele;
Sortino, Vincenzo;
Vitaliti, Giovanna;
Privitera, Grete Francesca;
Ruggieri, Martino;
Fusto, Gaia;
Pappalardo, Xena Giada

Publication type:

Article