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DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery Neurogenetics (IF 2.2) Pub Date : 2024-03-18 Sokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, Fabian Ott, Vladimir S. Kostic, Agata Gajos, Alexander Münchau, Simone Zittel, Hauke Busch, Anne Grünewald, Christine Klein, Katja Lohmann
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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA Neurogenetics (IF 2.2) Pub Date : 2024-03-18
Abstract Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement
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Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy Neurogenetics (IF 2.2) Pub Date : 2024-03-09 Zhi-Jian Lin, Jun-Wei He, Sheng-Yin Zhu, Li-Hong Xue, Jian-Feng Zheng, Li-Qin Zheng, Bi-Xia Huang, Guo-Zhang Chen, Peng-Xing Lin
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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort Neurogenetics (IF 2.2) Pub Date : 2024-02-22
Abstract The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed
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Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy Neurogenetics (IF 2.2) Pub Date : 2024-02-21 Pardis Najafi, Christian Reimer, Jonathan D. Gilthorpe, Kirsten R. Jacobsen, Maja Ramløse, Nora-Fabienne Paul, Henner Simianer, Jens Tetens, Clemens Falker-Gieske
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Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature Neurogenetics (IF 2.2) Pub Date : 2024-02-09 Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
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Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families Neurogenetics (IF 2.2) Pub Date : 2024-02-01
Abstract Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis
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A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review Neurogenetics (IF 2.2) Pub Date : 2024-01-29 Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
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Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A Neurogenetics (IF 2.2) Pub Date : 2024-01-27 Namanpreet Kaur, Khyati Arora, Periyasamy Radhakrishnan, Dhanya Lakshmi Narayanan, Anju Shukla
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Bi-allelic variants in HCRT cause autosomal recessive narcolepsy Neurogenetics (IF 2.2) Pub Date : 2024-01-19 Wejdan Hakami, Farah Thabet, Amal Alhashem, Abdulaziz Alghamdi, Saad Alshahwan, Fowzan S. Alkuraya, Brahim Tabarki
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GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review Neurogenetics (IF 2.2) Pub Date : 2024-01-08 Raffaele Falsaperla, Vincenzo Sortino, Giovanna Vitaliti, Grete Francesca Privitera, Martino Ruggieri, Gaia Fusto, Xena Giada Pappalardo
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Dem-Aging: autophagy-related pathologies and the “two faces of dementia” Neurogenetics (IF 2.2) Pub Date : 2023-12-20 N. Gammaldi, S. Doccini, S. Bernardi, M. Marchese, M. Cecchini, R. Ceravolo, S. Rapposelli, GM. Ratto, S. Rocchiccioli, F. Pezzini, F. M. Santorelli
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Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship Neurogenetics (IF 2.2) Pub Date : 2023-12-18 Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami
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Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns Neurogenetics (IF 2.2) Pub Date : 2023-11-06 Wendi Huang, Ying Yang, Fengyu Che, Haibin Wu, Ying Ma, Yujuan Zhao
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Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort Neurogenetics (IF 2.2) Pub Date : 2023-11-02 Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Faruq
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Two novel cases of biallelic SMPD4 variants with brain structural abnormalities Neurogenetics (IF 2.2) Pub Date : 2023-10-26 Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu
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Retraction Note: Clinical characterization of familial 1p36.3 microduplication. Neurogenetics (IF 2.2) Pub Date : 2023-10-07 Junping Jiao,Yuping Wang,Yue Hou,Chao Gao,Huimin Shi,Shujuan Tian
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A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity Neurogenetics (IF 2.2) Pub Date : 2023-09-05 Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C. Kruer, Hossein Mozdarani
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Adult-onset Alexander disease among patients of Jewish Syrian descent Neurogenetics (IF 2.2) Pub Date : 2023-09-02 Saar Anis, Tsvia Fay-Karmon, Simon Lassman, Fadi Shbat, Orit Lesman-Segev, Nofar Mor, Ortal Barel, Dan Dominissini, Odelia Chorin, Elon Pras, Lior Greenbaum, Sharon Hassin-Baer
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Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light Neurogenetics (IF 2.2) Pub Date : 2023-08-22 Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio
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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry Neurogenetics (IF 2.2) Pub Date : 2023-08-19 Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri, Morteza Rezvani Kashani, Nahideh Khosroshahi, Maryam Rasulinezhad, Morteza Heidari, Man Amanat, Alireza Abdi, Bahram Mohammadi, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Abdolmajid Omrani, Sedigheh Nikbakht, Ali Hosseini
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Clinical and functional study of two de novo variations of CDKL5 gene Neurogenetics (IF 2.2) Pub Date : 2023-08-16 Yang You, Xinyi Men, Wenjuan Wu, Shan Liu, Xuexin He, Suzhen Sun, Xiuxia Wang, Baoguang Li
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Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene Neurogenetics (IF 2.2) Pub Date : 2023-08-17 Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
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A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability Neurogenetics (IF 2.2) Pub Date : 2023-07-31 Nana Li, Hong Kang, Yanna Zou, Zhen Liu, Ying Deng, Meixian Wang, Lu Li, Hong Qin, Xiaoqiong Qiu, Yanping Wang, Jun Zhu, Mark Agostino, Julian I-T Heng, Ping Yu
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Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review Neurogenetics (IF 2.2) Pub Date : 2023-07-19 Zeyu Zhu, Wenzhe Hou, Yuwen Cao, Haoran Zheng, Wotu Tian, Li Cao
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Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders Neurogenetics (IF 2.2) Pub Date : 2023-07-15 Lianghao Si, Zhanjun Wang, Xu-Ying Li, Yang Song, Tingyan Yao, Erhe Xu, Xianling Wang, Chaodong Wang
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Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families Neurogenetics (IF 2.2) Pub Date : 2023-07-05 S. Skoczylas, P. Jakiel, T. Płoszaj, K. Gadzalska, M. Borowiec, A. Pastorczak, H. Moczulska, M. Malarska, A. Eckersdorf-Mastalerz, E. Budzyńska, A. Zmysłowska
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PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity Neurogenetics (IF 2.2) Pub Date : 2023-06-21 Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E. Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H. Weishaupt
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Clinical characterization of familial 1p36.3 microduplication Neurogenetics (IF 2.2) Pub Date : 2023-06-08 Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
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COLQ-related congenital myasthenic syndrome: An integrative view Neurogenetics (IF 2.2) Pub Date : 2023-05-25 Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai, Nejat Mahdieh
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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30 Neurogenetics (IF 2.2) Pub Date : 2023-05-24 Mariana Santos, João Massano, Alexandra Manuel Lopes, Ana Filipa Brandão, João Parente Freixo, Jorge Oliveira
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Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene Neurogenetics (IF 2.2) Pub Date : 2023-05-05 Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva
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Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice Neurogenetics (IF 2.2) Pub Date : 2023-05-03 Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri, Alessandra Tessa
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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 Neurogenetics (IF 2.2) Pub Date : 2023-04-11 Frederike L. Harms, Deike Weiss, Jasmin Lisfeld, Malik Alawi, Kerstin Kutsche
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Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy Neurogenetics (IF 2.2) Pub Date : 2023-04-06 Zhi-Jian Lin, Bi-Xia Huang, Li-Fang Su, Sheng-Yin Zhu, Jun-Wei He, Guo-Zhang Chen, Peng-Xing Lin
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A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations Neurogenetics (IF 2.2) Pub Date : 2023-03-09 Chunwang Li, Penghui Liu, Weilin Huang, Haojie Wang, Ke Ma, Lingyun Zhuo, Yaqing Kang, Qiu He, Yuanxiang Lin, Dezhi Kang, Fuxin Lin
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Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients Neurogenetics (IF 2.2) Pub Date : 2023-02-21 Peiwei Zhao, Qingjie Meng, Chunhui Wan, Tao Lei, Lei Zhang, Xiankai Zhang, Li Tan, Hongmin Zhu, Xuelian He
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Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families Neurogenetics (IF 2.2) Pub Date : 2023-02-15 Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R. Phadke, Amita Moirangthem
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Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB Neurogenetics (IF 2.2) Pub Date : 2023-02-13 Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
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Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome Neurogenetics (IF 2.2) Pub Date : 2023-02-09 Xiangyue Zhao, Tingting Yu, Jie Tang, Ru-en Yao, Niu Li, Jian Wang
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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms Neurogenetics (IF 2.2) Pub Date : 2023-01-19 Laura Hecher, Frederike L. Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsche
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Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT Neurogenetics (IF 2.2) Pub Date : 2023-01-12 Seyedeh Atiyeh Afjei, Mohammad Farid Mohammadi, Elham Pourbakhtyaran, Homa Ghabeli, Mahmoud Reza Ashrafi, Roya Haghighi, Maryam Rasulinezhad, Neda Pak, Ali Reza Tavasoli, Morteza Heidari
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Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India Neurogenetics (IF 2.2) Pub Date : 2022-12-29 Saraswati Nashi, Kiran Polavarapu, Mainak Bardhan, Ram Murthy Anjanappa, Veeramani Preethish-Kumar, Seena Vengalil, Hansashree Padmanabha, Thenral S. Geetha, P. V. Prathyusha, Vedam Ramprasad, Aditi Joshi, Tanushree Chawla, Gopikirshnan Unnikrishnan, Pooja Sharma, Akshata Huddar, Bharathram Uppilli, Abel Thomas, Dipti Baskar, Susi Mathew, Deepak Menon, Gautham Arunachal, Mohammed Faruq, Kumarasamy
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Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior Neurogenetics (IF 2.2) Pub Date : 2022-11-30 Clemens Falker-Gieske, Jörn Bennewitz, Jens Tetens
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Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia Neurogenetics (IF 2.2) Pub Date : 2022-11-29 Tal Gilboa, Naama Elefant, Vardiella Meiner, Nuphar Hacohen
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Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients Neurogenetics (IF 2.2) Pub Date : 2022-11-26 Miral M. Refeat, Walaa El Naggar, Mostafa M. El Saied, Ayman Kilany
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Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia Neurogenetics (IF 2.2) Pub Date : 2022-11-19 M. Juhosová, J. Chandoga, F. Cisárik, S. Dallemule, P. Ďurina, D. Jarásková, P. Jungová, D. Kantarská, M. Kvasnicová, M. Mistrík, A. Pastoráková, R. Petrovič, A. Valachová, H. Zelinková, J. Barošová, D. Böhmer, J. Štofko
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CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review Neurogenetics (IF 2.2) Pub Date : 2022-11-04 Natalia Acosta-Baena, Johanna Alexandra Tejada-Moreno, Mauricio Arcos-Burgos, Carlos Andrés Villegas-Lanau
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A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia Neurogenetics (IF 2.2) Pub Date : 2022-10-03 Misbahuddin M. Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M. Sain, Mohammad Zubair Alam, Raja Hussain Ali
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Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation Neurogenetics (IF 2.2) Pub Date : 2022-09-17 Miguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, Maria Rosário Almeida, José Brás, Isabel Santana
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Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation Neurogenetics (IF 2.2) Pub Date : 2022-08-16 Mustafa Jaffry, Soumya Bouchachi, Mohsen Ahmed, Steve N. Gad, Swati Sathe, Nizar Souayah
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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders Neurogenetics (IF 2.2) Pub Date : 2022-08-03 Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard
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Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation Neurogenetics (IF 2.2) Pub Date : 2022-07-11 Marwa Maalej, Lamia Sfaihi, Marwa Ammar, Fakher Frikha, Marwa Kharrat, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Abdelaziz Tlili, Thouraya Kammoun, Faiza Fakhfakh
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Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET Neurogenetics (IF 2.2) Pub Date : 2022-07-05 Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, Mathilde Renaud
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Genetic analysis of 18 families with tuberous sclerosis complex Neurogenetics (IF 2.2) Pub Date : 2022-05-21 Kaili Yin, Nan Lin, Qiang Lu, Liri Jin, Yan Huang, Xiangqin Zhou, Kaifeng Xu, Qing Liu, Xue Zhang
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Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease Neurogenetics (IF 2.2) Pub Date : 2022-05-13 Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi, Yasemin Akin
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A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder Neurogenetics (IF 2.2) Pub Date : 2022-04-23 Asmat Ullah, Jai Krishin, Nighat Haider, Brekhna Aurangzeb, Abdullah, Sufyan Suleman, Wasim Ahmad, Torben Hansen, Sulman Basit
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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C Neurogenetics (IF 2.2) Pub Date : 2022-04-13 Mainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Shamita Sanga, Hansashree Padmanabh, Ravi Kiran Valasani, Vikas Nishadham, Muddasu Keerthipriya, Thenral S. Geetha, Vedam Ramprasad, Gautham Arunachal, Priya Treesa Thomas, Moulinath Acharya, Atchayaram Nalini
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Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment Neurogenetics (IF 2.2) Pub Date : 2022-04-09 Hélio A. G. Teive, Carlos Henrique F. Camargo, Eduardo R. Pereira, Léo Coutinho, Renato P. Munhoz
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Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability Neurogenetics (IF 2.2) Pub Date : 2022-04-07 Dengna Zhu, Mingmei Wang, Yiran Xu, Jiamei Zhang, Fan Yang, Zuozhen Yang