Neurogenetics

Keyphrases

Publications

volume 25, number 3, 2024

Federica Teutonico, Clara Volpe, Alice Proto, Ilaria Costi, Ugo Cavallari, Paola Doneda, Maria Iascone, Luisella Sturiale, Rita Barone, Stefano Martinelli, Aglaia Vignoli
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. Neurogenetics 25 (3) (2024)
Taiwo Ooreoluwa Ojo, Oluwabamise Emmanuel Elegbeleye, Olawale Quadri Bolaji, Temitope Isaac Adelusi, Elijah Kolawole Oladipo, Matthew Oluwaseun Olawuyi, Bukola Oluwafunmilayo Afolayan, Adegboye Oyewole Oyaronbi, Taiwo Temitope Ogunjobi, Moyosoluwa Precious Oyewole, Kolade Pelumi Folorunso, Abdeen Tunde Ogunlana
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis. Neurogenetics 25 (3) (2024)
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sulek
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 25 (3) (2024)
Federica Teutonico, Clara Volpe, Alice Proto, Ilaria Costi, Ugo Cavallari, Paola Doneda, Maria Iascone, Luisella Sturiale, Rita Barone, Stefano Martinelli, Aglaia Vignoli
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. Neurogenetics 25 (3) (2024)
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
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation. Neurogenetics 25 (3) (2024)
Marija Brankovic, Vukan Ivanovic, Ivana Basta, Rin Khang, Eugene Lee, Zorica Stevic, Branislav Ralic, Radoje Tubic, GoHun Seo, Vladana Markovic, Ivo Bozovic, Marina Svetel, Ana Marjanovic, Nikola Veselinovic, Sarlota Mesaros, Milena Jankovic, Dusanka Savic-Pavicevic, Zita Jovin, Ivana Novakovic, Hane Lee, Stojan Peric
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia. Neurogenetics 25 (3) (2024)
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
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation. Neurogenetics 25 (3) (2024)
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
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation. Neurogenetics 25 (3) (2024)
Afsaneh Bazgir, Mehdi Agha Gholizadeh, Seyyed Mohammad Kahani, Ali Reza Tavasoli, Masoud Garshasbi
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71. Neurogenetics 25 (3) (2024)
Lucas Cunha Barbosa, Gabriel Cardoso Machado, Manoela Heringer, Valéria Pereira Ferrer
Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis. Neurogenetics 25 (3) (2024)
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sulek
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 25 (3) (2024)
null Saima, Amjad Khan, Sajid Ali, Jiuhong Jiang, Zhichao Miao, Atif Kamil, Shahid Niaz Khan, Stefan T Arold
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability. Neurogenetics 25 (3) (2024)
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sulek
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 25 (3) (2024)
Marija Brankovic, Vukan Ivanovic, Ivana Basta, Rin Khang, Eugene Lee, Zorica Stevic, Branislav Ralic, Radoje Tubic, GoHun Seo, Vladana Markovic, Ivo Bozovic, Marina Svetel, Ana Marjanovic, Nikola Veselinovic, Sarlota Mesaros, Milena Jankovic, Dusanka Savic-Pavicevic, Zita Jovin, Ivana Novakovic, Hane Lee, Stojan Peric
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia. Neurogenetics 25 (3) (2024)
Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Sulistyo Emantoko Dwi Putra, Rina Triana, Matthew Justyn
The Apo gene's genetic variants: hidden role in Asian vascular risk. Neurogenetics 25 (3) (2024)
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon, Camilla Stefanini, Daniele Frattini, Susanna Rizzi, Anna Cavalli, Livia Garavelli, Carlo Fusco
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. Neurogenetics 25 (3) (2024)
Hande Ozkalayci, Elcin Bora, Tufan Cankaya, Mehmet Kocabey, Nadide Cemre Zubari, Uluc Yis, Ozlem Giray Bozkaya, Serkan Turan, Aynur Pekcanlar Akay, Ahmet Okay Caglayan, Ayfer Ulgenalp
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients. Neurogenetics 25 (3) (2024)
Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Sulistyo Emantoko Dwi Putra, Rina Triana, Matthew Justyn
The Apo gene's genetic variants: hidden role in Asian vascular risk. Neurogenetics 25 (3) (2024)
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon, Camilla Stefanini, Daniele Frattini, Susanna Rizzi, Anna Cavalli, Livia Garavelli, Carlo Fusco
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. Neurogenetics 25 (3) (2024)
Elka Stefanova, Ana Marjanović, Valerija Dobričić, Gorana Mandić-Stojmenović, Tanja Stojković, Marija Branković, Maksim Šarčević, Ivana Novaković, Vladimir S Kostić
Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics 25 (3) (2024)
Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo
Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics 25 (3) (2024)

Neurogenetics

Keyphrases

Publications

2024

volume 25, number 1, 2024

volume 25, number 2, 2024

volume 25, number 3, 2024