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European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.
Human Mutation|March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 3, 2022
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum ToxinMarcello Romano, Sergio Bagnato, Maria Concetta Altavista, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2023
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric StudyAlessio Di Fonzo, Marco Percetti, Edoardo Monfrini, et al.
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