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Articles, 2 records found
Articles 2 records found  
1.
11 p, 1.6 MB The Expanding Phenotypical Spectrum of WARS2 -Related Disorder : Four Novel Cases with a Common Recurrent Variant / Pauly, Martje G. (University Hospital Schleswig Holstein) ; Korenke, G. Christoph (University Children's Hospital) ; Diaw, Sokhna Haissatou (University of Luebeck) ; Grözinger, Anne (University of Luebeck) ; Cazurro-Gutiérrez, Ana Laura (Hospital Universitari Vall d'Hebron) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; González, Victoria (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Serrano Antón, Ana Teresa (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Peterlin, Borut (University Medical Centre Ljubljana) ; Božović, Ivana Babić (University Medical Centre Ljubljana) ; Maver, Aleš (University Medical Centre Ljubljana) ; Münchau, Alexander (University of Luebeck) ; Lohmann, Katja (University of Luebeck) ; Universitat Autònoma de Barcelona
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome. [...]
2023 - 10.3390/genes14040822
Genes, Vol. 14 (march 2023)  
Detailed record - Creative Commons
2.
8 p, 557.3 KB Transitional Care for Young People with Movement Disorders : Recommendations from the Task Force on Pediatrics / Pringsheim, Tamara (University of Calgary) ; Batla, Amit (UCL Institute of Neurology (Regne Unit)) ; Shalash, Ali (Ain Shams Univeristy) ; Sahu, Jitendra Kumar (Postgraduate Institute of Medical Education and Research) ; Cosentino, Carlos (Universidad Nacional Mayor de San Marcos (Lima, Perú)) ; Ebrahimi-Fakhari, Darius (Harvard Medical School) ; Friedman, Jennifer (UC San Diego) ; Lin, Jean-Pierre (King's College London) ; Mink, Jonathan (University of Rochester) ; Munchau, Alexander (Institute of Systems Motor Science) ; Munoz, Daniela (San Borja Arriaran Hospital) ; Nardocci, Nardo (Fondazione IRCCS Istituto Neurologico "C Besta") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Sardar, Zomer (Columbia University Irving Medical Center/New York Presbyterian Hospital) ; Triki, Chahnez (University of Sfax Tunisia) ; Ben-Pazi, Hilla (Movement Disorders Clinic) ; Silveira-Moriyama, Laura (University of Campinas) ; Troncoso-Schifferli, Monica (San Borja Arriaran Hospital) ; Hoshino, Kyoko (Segawa Memorial Neurological Clinic for Children) ; Dale, Russell C. (University of Sydney) ; Fung, Victor S.C. (University of Sydney) ; Kurian, Manju A. (Zayed Centre for Research into Rare Disease in Children) ; Roze, Emmanuel (Sorbonne University) ; Universitat Autònoma de Barcelona
The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset movement disorders. [...]
2023 - 10.1002/mdc3.13728
Movement Disorders Clinical Practice, Vol. 10 (april 2023) , p. 748-755  
Detailed record - Creative Commons

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