|
| 37879897 | Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort. | J Neurol Neurosurg Psychiatry | 2024 |
| 37593819 | Visual function in children with Joubert syndrome. | Dev Med Child Neurol | 2024 |
| 37957241 | Asperger's syndrome - about time to rename it? | Pediatr Res | 2024 |
| 37750385 | Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother. | Am J Med Genet A | 2024 |
| 38065672 | MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease. | Ann Neurol | 2024 |
| 38006292 | Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease? | Mov Disord | 2024 |
| 38054570 | Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. | Mov Disord | 2024 |
| 36152242 | Simultaneous Labeling of Adipogenic and Osteogenic Differentiating Stem Cells for Live Confocal Analysis. | Methods Mol Biol | 2023 |
| 38027469 | Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in <i>GBA</i>-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol. | BMJ Neurol Open | 2023 |
| 37750340 | Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study. | Mov Disord | 2023 |
| 37704671 | Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). | NPJ Parkinsons Dis | 2023 |
| 37892228 | Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions. | Biomolecules | 2023 |
| 37788254 | Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project. | PLoS One | 2023 |
| 37061879 | Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort". | Mov Disord | 2023 |
| 37185710 | Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD). | Curr Issues Mol Biol | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 37038048 | Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3. | Clin Genet | 2023 |
| 37369645 | Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). | NPJ Parkinsons Dis | 2023 |
| 37332652 | Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants. | Mov Disord Clin Pract | 2023 |
| 37131188 | The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. | Orphanet J Rare Dis | 2023 |
| 37090941 | Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related Syndrome. | Neurol Genet | 2023 |
| 36788297 | Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers. | Mov Disord | 2023 |
| 36788019 | Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. | J Med Genet | 2023 |
| 36521382 | Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene. | Stem Cell Res | 2023 |
| 36446697 | A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot. | Brain Dev | 2023 |
| 36692014 | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. | Mov Disord | 2023 |
| 36609835 | Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations. | Acta Neurol Belg | 2023 |
| 36468928 | A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough? | Arch Endocrinol Metab | 2023 |
| 36756855 | Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder. | Am J Med Genet A | 2023 |
| 36367252 | Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene. | Am J Med Genet A | 2023 |
| 36263864 | Mosaic Williams syndrome: A case report. | Am J Med Genet A | 2023 |
| 34085948 | Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. | J Med Genet | 2022 |
| 35743164 | Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders. | Int J Mol Sci | 2022 |
| 35352317 | Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency. | J Assist Reprod Genet | 2022 |
| 35796063 | SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis. | Placenta | 2022 |
| 35792653 | TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study. | Mov Disord | 2022 |
| 35810454 | The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited. | Mov Disord | 2022 |
| 36704070 | Benign Hereditary Chorea as a Manifestation of HPCA Mutation. | Mov Disord Clin Pract | 2022 |
| 36373941 | Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts. | Mov Disord | 2022 |
| 35970579 | Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium. | Neurology | 2022 |
| 36190683 | 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 Toxin. | Neurol Sci | 2022 |
| 35252175 | Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up. | Front Cell Dev Biol | 2022 |
| 35184035 | Patient-derived cellular models of primary ciliopathies. | J Med Genet | 2022 |
| 34997937 | Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. | Mov Disord | 2022 |
| 35238134 | Genotype-phenotype correlates in Joubert syndrome: A review. | Am J Med Genet C Semin Med Genet | 2022 |
| 35203326 | PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage. | Cells | 2022 |
| 35340043 | An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. | Ann Neurol | 2022 |
| 34675124 | <i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. | J Med Genet | 2022 |
| 34633332 | Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. | J Parkinsons Dis | 2022 |
| 34747546 | Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. | Hum Mutat | 2022 |