Issue 4/2021
Content (15 Articles)
Milestones in genetics of cerebellar ataxias
Magdalena Krygier, Maria Mazurkiewicz-Bełdzińska
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Clara D. van Karnebeek, Ingrid Blydt-Hansen, Allison M. Matthews, Vladimir Avramovic, Magda Price, Britt Drogemoller, Casper Shyr, Jessica Lee, Jill Mwenifumbo, Aisha Ghani, Sylvia Stockler, Jan M. Friedman, Anna Lehman, Colin J. Ross, Wyeth W. Wasserman, Maja Tarailo-Graovac, Gabriella A. Horvath
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Katja Kloth, Bernarda Lozic, Julia Tagoe, Mariëtte J. V. Hoffer, Amelie Van der Ven, Holger Thiele, Janine Altmüller, Christian Kubisch, Ping Yee Billie Au, Jonas Denecke, Emilia K. Bijlsma, Davor Lessel
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
Kiran Polavarapu, Aradhna Mathur, Aditi Joshi, Saraswati Nashi, Veeramani Preethish-Kumar, Mainak Bardhan, Pooja Sharma, Shaista Parveen, Malika Seth, Seena Vengalil, Tanushree Chawla, Leena Shingavi, Uzma Shamim, Sushmita Nayak, A. Vivekanand, Ana Töpf, Andreas Roos, Rita Horvath, Hanns Lochmüller, Bevinahalli Nandeesh, Gautham Arunachal, Atchayaram Nalini, Mohammed Faruq
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
Mohamed S. Abdel-Hamid, Sahar Sabry, Sherif F. Abdel-Ghafar, Sara H. El-Dessouky, Ghada M. H. Abdel-Salam
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse
Antonia Maletzko, Jana Key, Ilka Wittig, Suzana Gispert, Gabriele Koepf, Júlia Canet-Pons, Sylvia Torres-Odio, A. Phillip West, Georg Auburger
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
Y. Trakadis, A. Accogli, B. Qi, D. Bloom, R. Joober, E. Levy, K. Tabbane
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation
Sai Yang, Liwen Wu, Hongmei Liao, Xiulan Lu, Xiao Zhang, Xiaojun Kuang, Liming Yang
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study
Andoni Echaniz-Laguna, Cecilia Altuzarra, Alain Verloes, Marta Gomez Garcia De La Banda, Susana Quijano-Roy, Raluca Anca Tudorache, Altynshash Jaxybayeva, Bakhytkul Myrzaliyeva, Meriem Tazir, Jean-Michel Vallat, Bruno Francou, Jon Andoni Urtizberea
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Juan F. Quesada-Espinosa, Lucía Garzón-Lorenzo, José M. Lezana-Rosales, María J. Gómez-Rodríguez, María T. Sánchez-Calvin, Carmen Palma-Milla, Irene Gómez-Manjón, Irene Hidalgo-Mayoral, Rubén Pérez de la Fuente, Ana Arteche-López, María I. Álvarez-Mora, Ana Camacho-Salas, Jaime Cruz-Rojo, Irene Lázaro-Rodríguez, Montserrat Morales-Conejo, Noemí Nuñez-Enamorado, Ana Bustamante-Aragones, Rogelio Simón de las Heras, María A. Gomez-Cano, Patricia Ramos-Gómez, Ollalla Sierra-Tomillo, Alexandra Juárez-Rufián, Jesús Gallego-Merlo, Laura Rausell-Sánchez, Marta Moreno-García, Jaime Sánchez del Pozo
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
Chiara Cavestro, Celeste Panteghini, Chiara Reale, Alessia Nasca, Silvia Fenu, Ettore Salsano, Luisa Chiapparini, Barbara Garavaglia, Davide Pareyson, Ivano Di Meo, Valeria Tiranti
Increased unfolded protein responses caused by MED17 mutations
Takeshi Terabayashi, Satoru Hashimoto
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
K. Štěrbová, M. Vlčková, H. Hansíková, V. Sebroňová, L. Sedláčková, P. Pavlíček, Petra Laššuthová
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families
Thomas Courtin, Christelle Tesson, Jean-Christophe Corvol, Suzanne Lesage, Alexis Brice