Research Articleposted 2025-08-25 08:53:03
Genetic insights into the causal role of metabolic, immune, and microbial factors in migraine
Zixuan Xing, Junxiang Gu, Cong Wu, Jian Wang, Haozhe Huang, Wei Lin, Xianxia Yan
Published
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Research Articleposted 2025-07-23 05:49:39
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant of the AAAS gene
Ewa Juścińska, Karolina Gadzalska, Paulina Jakiel, Michał Pietrusiński, Tomasz Płoszaj, Monika Gorządek, Sebastian Skoczylas, and 4 more authors
Under Review
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Short Reportposted 2025-05-07 03:27:05
First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent Presentation
Alice Pham, Jennifer Harmon, Lia K. Thibodaux, Laura A. Flashman, Michelle Curtin
Under Review
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Research Articleposted 2024-11-15 11:41:45
Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-up
Sebastian Skoczylas, Tomasz Płoszaj, Karolina Gadzalska, Monika Gorządek, Paulina Jakiel, Ewa Juścińska, Maria Malarska, and 5 more authors
Published
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Research Articleposted 2024-10-22 09:45:37
Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian family
Ahoura Nozari, Setareh Banitalebi, Paria Babaahmadi, Narges Jalilian, Taha Sadeghi, Mahdieh Hasani
Published
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Research Articleposted 2024-10-22 08:36:29
Mild Neurodevelopmental Disorder Due to SHMT2 Mutations: Expanding the Phenotypic Spectrum
Hu Pan, Mei He, Xuan Luo, Juanli Hu, Xiao Mao, Yong Cheng, Zhen Liu
Published
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Research Articleposted 2024-09-02 19:32:25
Investigating the gut microbiome in Schizophrenia cases versus controls: South Africa’s version
Carlien Rust, Laila Asmal, Michaela O'Hare, Etheresia Pretorius, Robin Emsley, Soraya Seedat, Sian Hemmings
Published
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Research Articleposted 2024-04-19 17:54:11
Genotypic and Phenotypic Analysis of Korean Patients with Tuberous Sclerosis
Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Kang
Published
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Research Articleposted 2024-03-28 20:32:11
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, and 3 more authors
Published
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Research Articleposted 2024-03-14 19:43:18
Identification and the origin of GAA expansion in FGF14 (Spinocerebellar Ataxia Type 27B): an insight from Indian subcontinent suggests an ancient origin
Tiyasha De, Pooja Sharma, BharathramUpilli B. tech, Vivekanand A MSc, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faruq
Under Review
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