2025
- Clinical Actionability of Genetic Findings in Cerebral Palsy. JAMA Pediatrics 179 (2), 2025 more…
2024
- Adult‐Onset Parkinsonism as Late Manifestation of <scp><i>HIVEP2</i></scp>‐Associated Developmental Disorder. Movement Disorders Clinical Practice 11 (9), 2024, 1163-1165 more…
- Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology 97 (1), 2024, 76-89 more…
- Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways. Movement Disorders 40 (1), 2024, 7-21 more…
- Paroxysmal Non‐Kinesigenic Dyskinesias Associated with Biallelic <scp><i>POLG</i></scp> Variants: A Case Report. Movement Disorders 39 (12), 2024, 2300-2302 more…
- Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications Biology 7 (1), 2024 more…
- SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism & Related Disorders 119, 2024, 105960 more…
- Heterogeneous Phenotypic Evolution in <scp><i>ANO3</i></scp>‐Related Dystonia Due to the Recurrent <scp>p.Glu510Lys</scp> Variant. Movement Disorders 39 (3), 2024, 631-632 more…
- Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in Dystonia. Movement Disorders 40 (2), 2024, 357-362 more…
- Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders. Movement Disorders 39 (7), 2024, 1237-1238 more…
- Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients. Journal of Neurology 271 (7), 2024, 4685-4692 more…
- Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report. Clinical Parkinsonism & Related Disorders 11, 2024, 100267 more…
- Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies. Movement Disorders 39 (11), 2024, 2110-2116 more…
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. The American Journal of Human Genetics 111 (6), 2024, 1239 more…
- Proteomic Profiling in Dystonia: The Next Frontier for Pathophysiology Research and Biomarker Exploration. Movement Disorders 39 (9), 2024, 1478-1479 more…
- CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of Neurology 271 (5), 2024, 2859-2865 more…
- Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and Other Hyperkinetic Movements 14 (1), 2024 more…
- Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome. Tremor and Other Hyperkinetic Movements 14 (1), 2024 more…
- Consolidating the Role of Mutated <i>ATP2B2</i> in Neurodevelopmental and Cerebellar Pathologies. Clinical Genetics 107 (1), 2024, 91-97 more…
- Reply to: “Clinical and Molecular Profiling in <scp><i>GNAO1</i></scp> Permits Phenotype–Genotype Correlation”. Movement Disorders 39 (11), 2024, 2124-2125 more…
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. Nature Communications 15 (1), 2024 more…
- Next-generation sequencing and bioinformatics in rare movement disorders. Nature Reviews Neurology 20 (2), 2024, 114-126 more…
- Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort. Movement Disorders 39 (12), 2024, 2302-2304 more…