The natural history of multiple system atrophy: a prospective European cohort studyGregor K. Wenning, Werner Poewe, Niall Quinn et al.|The Lancet Neurology|2013Cited by 533
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucía Schottlaender, Shazia Maqbool, Rosella Abeti et al.|The American Journal of Human Genetics|2020Cited by 85
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Eleni Zamba Papanicolaou, Reza Maroofian et al.|Brain|2020Cited by 50
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Bernard Brais, Elisabetta Indelicato et al.|Brain Communications|2023Cited by 29
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, Tobias B. Haack, Georg Christoph Korenke et al.|European Journal of Medical Genetics|2020Cited by 23