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Movement Disorders : Official Journal of the Movement Disorder Society|December 14, 2020
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial FindingsVolha Skrahina, Hanaa Gaber, Eva-Juliane Vollstedt, et al.Parkinsonism & Related Disorders|February 5, 2019
Role of ANO3 mutations in dystonia: A large-scale mutational screening studyLuisa Olschewski, Silvia Jesús, Han-Joon Kim, et al.Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.Brain : a Journal of Neurology|February 21, 2013
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6Kathrin Reetz, Ana S Costa, Shahram Mirzazade, et al.Neuroimage|July 28, 2009
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6Jörg B Schulz, Johannes Borkert, Stefanie Wolf, et al.Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.The Journal of Allergy and Clinical Immunology|October 30, 2016
Evolution and predictive value of IgE responses toward a comprehensive panel of house dust mite allergens during the first 2 decades of lifeDaniela Posa, Serena Perna, Yvonne Resch, et al.Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.Nature Communications|September 3, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansionsLars Mohren, Friedrich Erdlenbruch, Elsa Leitão, et al.Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.Pageof 67