2025
- A Novel α‐Synuclein <scp>K58N</scp> Missense Variant in a Patient with Parkinson's Disease. Movement Disorders 40 (12), 2025, 2732-2745 more…
- <i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndrome. Journal of Medical Genetics 62 (6), 2025, 388-395 more…
- The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series. Annals of Neurology 98 (3), 2025, 561-572 more…
- <i>De Novo</i> Variants in <scp> <i>PPFIA2</i> </scp> in Individuals With Neurodevelopmental Disorders. American Journal of Medical Genetics Part A 200 (2), 2025, 511-517 more…
- A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features. Molecular Neurodegeneration 20 (1), 2025 more…
- A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features. Molecular Neurodegeneration 20 (1), 2025 more…
- Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia. Neuropediatrics 57 (01), 2025, 065-068 more…
- Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase. Movement Disorders 40 (7), 2025, 1388-1400 more…
- Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders. Current Neurology and Neuroscience Reports 25 (1), 2025 more…
- Deciphering <i>DST</i> -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy. Brain 149 (2), 2025, 653-667 more…
- TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism. Parkinsonism & Related Disorders 134, 2025, 107781 more…
- ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited. Clinical Parkinsonism & Related Disorders 13, 2025, 100406 more…
- Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes. Annals of Neurology 97 (5), 2025, 826-844 more…
- Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia. European Journal of Neurology 32 (3), 2025 more…
- Rediscovery of the Tubulin β‐<scp>4A</scp> p.<scp>Arg2Gly</scp> Variant in Whispering Dysphonia: A Report from Austria. Movement Disorders 40 (8), 2025, 1725-1726 more…
- <scp> <i>AOPEP</i> </scp> ‐Related Dystonia with Supranuclear Vertical Gaze Palsy. Movement Disorders Clinical Practice 12 (10), 2025, 1647-1652 more…
- Reduced Penetrance in Interferonopathy‐Associated Dystonia: Hope for Clues to Mechanism? Movement Disorders 40 (6), 2025, 1047-1048 more…
- TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor! Parkinsonism & Related Disorders 133, 2025, 107323 more…
- The Attenuated Phenotype of <i>CNTNAP1</i> ‐Related Neuropathy Mimics Spastic–Dystonic Cerebral Palsy. American Journal of Medical Genetics Part A 197 (11), 2025 more…
- Clinical Actionability of Genetic Findings in Cerebral Palsy. JAMA Pediatrics 179 (2), 2025 more…
- Clinical Actionability of Genetic Findings in Cerebral Palsy. JAMA Pediatrics 179 (2), 2025 more…
- Pleiotropic effects of <i>MORC2</i> derive from its epigenetic signature. Brain 149 (1), 2025, 163-177 more…
- Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia. Parkinsonism & Related Disorders 132, 2025, 107274 more…
- Big data and transformative bioinformatics in genomic diagnostics and beyond. Parkinsonism & Related Disorders 134, 2025, 107311 more…
- New Progressive Generalized Dystonia Phenotype in a Patient with <scp><i>NBEA</i></scp>‐Related Neurodevelopmental Disease. Movement Disorders Clinical Practice 12 (8), 2025, 1184-1186 more…
- Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship. Annals of Neurology 97 (5), 2025, 809-825 more…
- Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia. Movement Disorders 41 (1), 2025, 70-83 more…
- Corrigendum to “Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders” [Parkinson. Relat. Disord. (2025) 133 107319]. Parkinsonism & Related Disorders 134, 2025, 107795 more…
- Paroxysmal nocturnal dystonia in DNM1L-related syndrome. Parkinsonism & Related Disorders 133, 2025, 107351 more…
- Deep Brain Stimulation for <scp> <i>VPS16</i> </scp> ‐Related Dystonia: A Multicenter Study. Annals of Neurology 98 (4), 2025, 711-725 more…
- Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia. Movement Disorders 40 (6), 2025, 1009-1019 more…
- Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms. Neurological Sciences 46 (11), 2025, 5657-5669 more…
- Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain 148 (8), 2025, 2827-2846 more…
- Trio Exome Sequencing in VACTERL Association. Kidney International Reports 10 (3), 2025, 877-891 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…
- 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…
- 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—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…
- Paradoxical caffeine-responsive paroxysmal nonkinesigenic dyskinesias. Acta Neurologica Belgica 125 (1), 2024, 253-255 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…
- 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…
- 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…