Works matching IS 13646745 AND DT 2024 AND VI 25 AND IP 3

Results: 13

Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 225, doi. 10.1007/s10048-024-00753-z

By:

Bazgir, Afsaneh;
Agha Gholizadeh, Mehdi;
Kahani, Seyyed Mohammad;
Tavasoli, Ali Reza;
Garshasbi, Masoud

Publication type:

Article

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 233, doi. 10.1007/s10048-024-00762-y

By:

Radziwonik-Fraczyk, Wiktoria;
Elert-Dobkowska, Ewelina;
Karpinski, Marek;
Pilch, Jacek;
Ziora-Jakutowicz, Karolina;
Kubalska, Jolanta;
Szczesniak, Dominika;
Stepniak, Iwona;
Zaremba, Jacek;
Sulek, Anna

Publication type:

Article

Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 193, doi. 10.1007/s10048-024-00766-8

By:

Stefanova, Elka;
Marjanović, Ana;
Dobričić, Valerija;
Mandić-Stojmenović, Gorana;
Stojković, Tanja;
Branković, Marija;
Šarčević, Maksim;
Novaković, Ivana;
Kostić, Vladimir S.

Publication type:

Article

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 201, doi. 10.1007/s10048-024-00765-9

By:

Ozkalayci, Hande;
Bora, Elcin;
Cankaya, Tufan;
Kocabey, Mehmet;
Zubari, Nadide Cemre;
Yis, Uluc;
Giray Bozkaya, Ozlem;
Turan, Serkan;
Pekcanlar Akay, Aynur;
Caglayan, Ahmet Okay;
Ulgenalp, Ayfer

Publication type:

Article

Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 263, doi. 10.1007/s10048-024-00764-w

By:

Ojo, Taiwo Ooreoluwa;
Elegbeleye, Oluwabamise Emmanuel;
Bolaji, Olawale Quadri;
Adelusi, Temitope Isaac;
Oladipo, Elijah Kolawole;
Olawuyi, Matthew Oluwaseun;
Afolayan, Bukola Oluwafunmilayo;
Oyaronbi, Adegboye Oyewole;
Ogunjobi, Taiwo Temitope;
Oyewole, Moyosoluwa Precious;
Folorunso, Kolade Pelumi;
Ogunlana, Abdeen Tunde

Publication type:

Article

Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 249, doi. 10.1007/s10048-024-00763-x

By:

Barbosa, Lucas Cunha;
Machado, Gabriel Cardoso;
Heringer, Manoela;
Ferrer, Valéria Pereira

Publication type:

Article

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.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0

By:

Cesaroni, Carlo Alberto;
Contrò, Gianluca;
Spagnoli, Carlotta;
Cancelliere, Federica;
Caraffi, Stefano Giuseppe;
Leon, Alberta;
Stefanini, Camilla;
Frattini, Daniele;
Rizzi, Susanna;
Cavalli, Anna;
Garavelli, Livia;
Fusco, Carlo

Publication type:

Article

Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 179, doi. 10.1007/s10048-024-00759-7

By:

Saima;
Khan, Amjad;
Ali, Sajid;
Jiang, Jiuhong;
Miao, Zhichao;
Kamil, Atif;
Khan, Shahid Niaz;
Arold, Stefan T.

Publication type:

Article

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

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 277, doi. 10.1007/s10048-024-00758-8

By:

Palombo, Flavia;
Vaisfeld, Alessandro;
Tropeano, Valentina Concetta;
Ormanbekova, Danara;
Bacchi, Isabelle;
Fiorini, Claudio;
Peruzzi, Adelaide;
Morandi, Luca;
Liguori, Rocco;
Carelli, Valerio;
Rizzo, Giovanni

Publication type:

Article

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

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 157, doi. 10.1007/s10048-024-00757-9

By:

Besin, Valentinus;
Humardani, Farizky Martriano;
Yulianti, Trilis;
Putra, Sulistyo Emantoko Dwi;
Triana, Rina;
Justyn, Matthew

Publication type:

Article

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 215, doi. 10.1007/s10048-024-00756-w

By:

Pozzi, Federico Emanuele;
Aprea, Vittoria;
Giovannelli, Ginevra;
Lattuada, Francesca;
Crivellaro, Cinzia;
Bertola, Francesca;
Castelnovo, Veronica;
Canu, Elisa;
Filippi, Massimo;
Appollonio, Ildebrando;
Ferrarese, Carlo;
Agosta, Federica;
Tremolizzo, Lucio

Publication type:

Article

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 165, doi. 10.1007/s10048-024-00755-x

By:

Brankovic, Marija;
Ivanovic, Vukan;
Basta, Ivana;
Khang, Rin;
Lee, Eugene;
Stevic, Zorica;
Ralic, Branislav;
Tubic, Radoje;
Seo, GoHun;
Markovic, Vladana;
Bozovic, Ivo;
Svetel, Marina;
Marjanovic, Ana;
Veselinovic, Nikola;
Mesaros, Sarlota;
Jankovic, Milena;
Savic-Pavicevic, Dusanka;
Jovin, Zita;
Novakovic, Ivana;
Lee, Hane

Publication type:

Article

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 281, doi. 10.1007/s10048-024-00754-y

By:

Teutonico, Federica;
Volpe, Clara;
Proto, Alice;
Costi, Ilaria;
Cavallari, Ugo;
Doneda, Paola;
Iascone, Maria;
Sturiale, Luisella;
Barone, Rita;
Martinelli, Stefano;
Vignoli, Aglaia

Publication type:

Article