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Annals of Neurology|January 10, 2002
PARK6-linked parkinsonism occurs in several European familiesEnza Maria Valente, Francesco Brancati, Alessandro Ferraris, et al.
Science (New York, N.Y.)|April 17, 2004
Hereditary early-onset Parkinson's disease caused by mutations in PINK1Enza Maria Valente, Patrick M Abou-Sleiman, Viviana Caputo, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
American Journal of Human Genetics|April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like FaciesMarcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
Frontiers in Genetics|December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysisDavide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Parkinsonism & Related Disorders|March 3, 2020
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonismSimone Martinelli, Viviana Cordeddu, Serena Galosi, et al.
Neurology|July 1, 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
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