Works matching IS 13646745 AND DT 2023 AND VI 24 AND IP 3

Results: 9

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 181, doi. 10.1007/s10048-023-00718-8

By:

Tritto, Viviana;
Grilli, Federico;
Milani, Donatella;
Riva, Paola

Publication type:

Article

PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 209, doi. 10.1007/s10048-023-00723-x

By:

Hebestreit, Sophie;
Schwahn, Janine;
Sandikci, Vesile;
Maros, Mate E.;
Valkadinov, Ivan;
Yilmaz, Rüstem;
Eckrich, Lukas;
Loghmani, Seyed Babak;
Lesch, Hendrik;
Conrad, Julian;
Wenz, Holger;
Ebert, Anne;
Brenner, David;
Weishaupt, Jochen H.

Publication type:

Article

Clinical characterization of familial 1p36.3 microduplication.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 201, doi. 10.1007/s10048-023-00722-y

By:

Jiao, Junping;
Wang, Yuping;
Hou, Yue;
Gao, Chao;
Shi, Huimin;
Tian, Shujuan

Publication type:

Article

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 215, doi. 10.1007/s10048-023-00720-0

By:

Santos, Mariana;
Massano, João;
Lopes, Alexandra Manuel;
Brandão, Ana Filipa;
Freixo, João Parente;
Oliveira, Jorge

Publication type:

Article

Response to a letter to the editor.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 219, doi. 10.1007/s10048-023-00721-z

By:

Jury, Jeanne;
Nizon, Mathilde;
Cogné, Benjamin;
Isidor, Bertrand

Publication type:

Article

COLQ-related congenital myasthenic syndrome: An integrative view.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 189, doi. 10.1007/s10048-023-00719-7

By:

Eshaghian, Tina;
Rabbani, Bahareh;
Badv, Reza Shervin;
Mikaeeli, Sahar;
Gharib, Behdad;
Iyadurai, Stanley;
Mahdieh, Nejat

Publication type:

Article

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.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 171, doi. 10.1007/s10048-023-00716-w

By:

Harms, Frederike L.;
Weiss, Deike;
Lisfeld, Jasmin;
Alawi, Malik;
Kutsche, Kerstin

Publication type:

Article

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 147, doi. 10.1007/s10048-023-00717-9

By:

Galatolo, Daniele;
Trovato, Rosanna;
Scarlatti, Arianna;
Rossi, Salvatore;
Natale, Gemma;
De Michele, Giovanna;
Barghigiani, Melissa;
Cioffi, Ettore;
Filla, Alessandro;
Bilancieri, Giusi;
Casali, Carlo;
Santorelli, Filippo M.;
Silvestri, Gabriella;
Tessa, Alessandra

Publication type:

Article

Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy.

Published in:

Neurogenetics, 2023, v. 24, n. 3, p. 161, doi. 10.1007/s10048-023-00715-x

By:

Lin, Zhi-Jian;
Huang, Bi-Xia;
Su, Li-Fang;
Zhu, Sheng-Yin;
He, Jun-Wei;
Chen, Guo-Zhang;
Lin, Peng-Xing

Publication type:

Article