Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Élodie M. Richard(Inserm), Michele Pinelli(Radboud University Nijmegen), Anne M. Comi(Kennedy Krieger Institute), Theresa Brunet(Helmholtz Zentrum München), Constance Smith‐Hicks(Kennedy Krieger Institute), Yiran Guo(Children's Hospital of Philadelphia), Semra Hız(Dokuz Eylül University), Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Richard Webster(Children's Hospital at Westmead), Andreas Hahn(Justus-Liebig-Universität Gießen), Serdal Güngör(Inonu University), Marcella Zollino(Università Cattolica del Sacro Cuore), Ashley P.L. Marsh(Children’s Institute), Peter D. Turnpenny(University of Exeter), Andreas Ziegler(Heidelberg University), Sandra M. Nordlie(Barrow Neurological Institute), Jiankang Li(Xijing Hospital), Vincenzo Nigro(University of Campania "Luigi Vanvitelli"), Bethany Y. Norton(Barrow Neurological Institute), Rita Horváth(Wellcome Centre for Mitochondrial Research), Patricia Cornejo(Barrow Neurological Institute), Yavuz Oktay(Dokuz Eylül University), Melissa Yelton(Penn State Milton S. Hershey Medical Center), Bader Alhaddad(Helmholtz Zentrum München), Urania Kotzaeridou(Heidelberg University), Joseph Ekstein, Tzvi Weiden(Center for Jewish–Christian Understanding and Cooperation), Alex M. Pagnozzi(Australian e-Health Research Centre), Mahim Jain(Kennedy Krieger Institute), Alyssa Blesson(Kennedy Krieger Institute), Matias Wagner(Helmholtz Zentrum München), Lisa Worgan(Liverpool Hospital), Hanns Lochmüller(Muscular Dystrophy UK), Nazira Zharkinbekova(Weatherford College), Julie S. Cohen(Kennedy Krieger Institute), Manuela Morleo(University of Campania "Luigi Vanvitelli"), Lance H. Rodan(Boston Children's Hospital), Helen Magee(Barrow Neurological Institute), Anna Chassevent(Kennedy Krieger Institute), Dominic Lenz(Heidelberg University), Sheetal Shetty(Barrow Neurological Institute), Brandon S. Guida(Barrow Neurological Institute), Håkon Håkonarson(Children's Hospital of Philadelphia), Arianna Tucci(Genomics England), Annalaura Torella(University of Campania "Luigi Vanvitelli"), James Liu(Barrow Neurological Institute), Somayeh Bakhtiari(Barrow Neurological Institute), Thomas Meitinger(Ludwig-Maximilians-Universität München), Mary-Alice Abbott(Baystate Medical Center), Giuseppe Marangi(Agostino Gemelli University Polyclinic)
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