Neurogenetics

Keyphrases

Publications

2023

Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai, Nejat Mahdieh
COLQ-related congenital myasthenic syndrome: An integrative view. Neurogenetics (2023)
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 Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. Neurogenetics (2023)
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. Neurogenetics (2023)
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
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity. Neurogenetics (2023)
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
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability. Neurogenetics (2023)
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Clinical characterization of familial 1p36.3 microduplication. Neurogenetics (2023)
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Retraction Note: Clinical characterization of familial 1p36.3 microduplication. Neurogenetics (2023)
Zhi-Jian Lin, Bi-Xia Huang, Li-Fang Su, Sheng-Yin Zhu, Jun-Wei He, Guo-Zhang Chen, Peng-Xing Lin
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy. Neurogenetics (2023)
S Skoczylas, P Jakiel, T Płoszaj, K Gadzalska, M Borowiec, A Pastorczak, H Moczulska, M Malarska, A Eckersdorf-Mastalerz, E Budzyńska, A Zmysłowska
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families. Neurogenetics (2023)
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 Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. Neurogenetics (2023)
Yang You, Xinyi Men, Wenjuan Wu, Shan Liu, Xuexin He, Suzhen Sun, Xiuxia Wang, Baoguang Li
Clinical and functional study of two de novo variations of CDKL5 gene. Neurogenetics (2023)
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB. Neurogenetics (2023)
Laura Hecher, Frederike L Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsche
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms. Neurogenetics (2023)
Wendi Huang, Ying Yang, Fengyu Che, Haibin Wu, Ying Ma, Yujuan Zhao
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns. Neurogenetics (2023)
Jeanne Jury, Mathilde Nizon, Benjamin Cogné, Bertrand Isidor
Response to a letter to the editor. Neurogenetics (2023)
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo Maria Santorelli, Gabriella Silvestri, Alessandra Tessa
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice. Neurogenetics (2023)
Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene. Neurogenetics (2023)
Chunwang Li, Penghui Liu, Weilin Huang, Haojie Wang, Ke Ma, Lingyun Zhuo, Yaqing Kang, Qiu He, Yuanxiang Lin, Dezhi Kang, Fuxin Lin
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations. Neurogenetics (2023)
Frederike L Harms, Deike Weiss, Jasmin Lisfeld, Malik Alawi, Kerstin Kutsche
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 (2023)
Lianghao Si, Zhanjun Wang, Xu-Ying Li, Yang Song, Tingyan Yao, Erhe Xu, Xianling Wang, Chaodong Wang
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders. Neurogenetics (2023)
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
Adult-onset Alexander disease among patients of Jewish Syrian descent. Neurogenetics (2023)
Peiwei Zhao, Qingjie Meng, Chunhui Wan, Tao Lei, Lei Zhang, Xiankai Zhang, Li Tan, Hongmin Zhu, Xuelian He
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients. Neurogenetics (2023)
Zeyu Zhu, Wenzhe Hou, Yuwen Cao, Haoran Zheng, Wotu Tian, Zhaoxia Wang
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review. Neurogenetics (2023)
Xiangyue Zhao, Tingting Yu, Jie Tang, Ru-En Yao, Niu Li, Jian Wang
Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome. Neurogenetics (2023)
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
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics (2023)
Maike Tomforde, Meike Steinbach, Tobias B Haack, Gregor Kuhlenbäumer
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene. Neurogenetics (2023)
Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdarani
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics (2023)
Seyedeh Atiyeh Afjei, Mohammad Farid Mohammadi, Elham Pourbakhtyaran, Homa Ghabeli, Mahmoud Reza Ashrafi, Roya Haghighi, Maryam Rasulinezhad, Neda Pak, Ali Reza Tavasoli, Morteza Heidari
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT. Neurogenetics (2023)
Mariana Santos, João Massano, Alexandra Manuel Lopes, Ana Filipa Brandão, João Parente Freixo, Jorge Oliveira
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30. Neurogenetics (2023)
Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light. Neurogenetics (2023)
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha Rao Phadke, Amita Moirangthem
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families. Neurogenetics (2023)

volume 24, number 1, 2022

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 Thangaraj, Atchayaram Nalini
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 24 (1) (2022)
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 Thangaraj, Atchayaram Nalini
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 24 (1) (2022)
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 Thangaraj, Atchayaram Nalini
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 24 (1) (2022)
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 Thangaraj, Atchayaram Nalini
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 24 (1) (2022)

volume 23, number 2, 2022

Nasna Nassir, Isra Sati, Shaiban Al Shaibani, Awab Ahmed, Omar Almidani, Hosneara Akter, Marc Woodbury-Smith, Ahmad Abou Tayoun, Mohammed Uddin, Ammar Albanna
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. Neurogenetics 23 (2) (2022)
Sachiko Miyamoto, Mitsuko Nakashima, Shinobu Fukumura, Satoko Kumada, Hirotomo Saitsu
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation. Neurogenetics 23 (2) (2022)
Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D'Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkemaladze, Laura Adang, Roberta La Piana, Geneviève Bernard, Nancy E Braverman
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. Neurogenetics 23 (2) (2022)

volume 23, number 3, 2022

Dengna Zhu, Mingmei Wang, Yiran Xu, Jiamei Zhang, Fan Yang, Zuozhen Yang
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability. Neurogenetics 23 (3) (2022)
Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira de Camargo, Eduardo R Pereira, Léo Coutinho, Renato Puppi Munhoz
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment. Neurogenetics 23 (3) (2022)
Kaili Yin, Nan Lin, Qiang Lu, Liri Jin, Yan Huang, Xiangqin Zhou, Kaifeng Xu, Qing Liu, Xue Zhang
Genetic analysis of 18 families with tuberous sclerosis complex. Neurogenetics 23 (3) (2022)
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
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. Neurogenetics 23 (3) (2022)
Asmat Ullah, Jai Krishin, Nighat Haider, Brekhna Aurangzeb, null Abdullah, Sufyan Suleman, Wasim Ahmad, Torben Hansen, Sulman Basit
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder. Neurogenetics 23 (3) (2022)
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi, Yasemin Akin
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease. Neurogenetics 23 (3) (2022)

volume 23, number 4, 2022

Natalia Acosta-Baena, Johanna Alexandra Tejada-Moreno, Mauricio Arcos-Burgos, Carlos Andrés Villegas-Lanau
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review. Neurogenetics 23 (4) (2022)
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
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18 F-FDG PET. Neurogenetics 23 (4) (2022)
Marwa Maalej, Lamia Sfaihi, Marwa Ammar, Fakher Frikha, Marwa Kharrat, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Abdelaziz Tlili, Thouraya Kammoun, Faiza Fakhfakh
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 23 (4) (2022)
Amytice Mirchi, Alexa Derksen, Luan T Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F Theil, Geneviève Bernard
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders. Neurogenetics 23 (4) (2022)
Miguel Tábuas-Pereira, Rita Guerreiro, Celia Kun-Rodrigues, Maria Rosário Almeida, Jose T Bras, Isabel Santana
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 23 (4) (2022)
Mustafa Jaffry, Soumya Bouchachi, Mohsen Ahmed, Steve N Gad, Swati Sathe, Nizar Souayah
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation. Neurogenetics 23 (4) (2022)