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Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1237, doi. 10.1002/mds.29797
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- Article
Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐Related Disorders.
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- Movement Disorders, 2024, v. 39, n. 6, p. 1072, doi. 10.1002/mds.29745
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- Article
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
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- Movement Disorders, 2024, v. 39, n. 4, p. 747, doi. 10.1002/mds.29732
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- Article
Reply to: "Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
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- Movement Disorders, 2024, v. 39, n. 3, p. 632, doi. 10.1002/mds.29733
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- Article
The Clinical Spectrum of ANO3—Report of a New Family and Literature Review.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 3, p. 289, doi. 10.1002/mdc3.13979
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- Article
ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
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- Movement Disorders, 2024, v. 39, n. 1, p. 220, doi. 10.1002/mds.29672
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- Article
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 87, doi. 10.1002/mdc3.13927
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- Article
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
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- Movement Disorders, 2023, v. 38, n. 12, p. 2241, doi. 10.1002/mds.29617
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- Article
Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 11, p. 1620, doi. 10.1002/mdc3.13892
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- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
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- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
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- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Article
Genetics, sex, and gender.
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- Journal of Neuroscience Research, 2023, v. 101, n. 5, p. 553, doi. 10.1002/jnr.24945
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- Article
Two Cases of TMEM151A‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 842, doi. 10.1002/mdc3.13705
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- Article
Adult-onset KMT2B-related dystonia.
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- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac276
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- Article
DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
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- European Journal of Neurology, 2022, v. 29, n. 7, p. 2056, doi. 10.1111/ene.15326
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- Article
Neurodevelopmental Disorder and Late‐Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 1, p. 110, doi. 10.1002/mdc3.13365
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- Article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
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- Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0
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- Article
Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study.
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- Applied Sciences (2076-3417), 2021, v. 11, n. 17, p. 8096, doi. 10.3390/app11178096
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- Article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
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- 2021
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- Publication type:
- journal article
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
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- 2021
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- Publication type:
- journal article
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1461, doi. 10.1002/mds.28547
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- Article
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
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- Article
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.658178
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- Article
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
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- 2021
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- Publication type:
- case study
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
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- Publication type:
- Article
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
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- Neurogenetics, 2021, v. 22, n. 1, p. 65, doi. 10.1007/s10048-021-00634-9
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- Article
The Role of VPS35 in the Pathobiology of Parkinson's Disease.
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- Cellular & Molecular Neurobiology, 2021, v. 41, n. 2, p. 199, doi. 10.1007/s10571-020-00849-8
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- Article
Thickness mapping of individual retinal layers and sectors by Spectralis Spectral Domain‐optical Coherence Tomography in Autosomal Dominant Optic Atrophy.
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- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 3, p. e390, doi. 10.1111/aos.14257
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- Article
Idiopathic brain calcification in a patient with hereditary hemochromatosis.
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- 2020
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- Publication type:
- journal article
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
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- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2163, doi. 10.3390/jcm8122163
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- Article
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
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- 2019
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- journal article
DMT1 Expression and Iron Levels at the Crossroads Between Aging and Neurodegeneration.
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- Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00575
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- Article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
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- 2019
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- Publication type:
- journal article
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 51, doi. 10.1002/mdc3.12693
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- Article
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
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- 2018
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- journal article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
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- 2018
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- Publication type:
- journal article
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
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- 2017
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- Publication type:
- case study
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.
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- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00385
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- Article
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
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- 2017
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- Publication type:
- journal article
The relevance of gender in Parkinson's disease: a review.
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- Journal of Neurology, 2017, v. 264, n. 8, p. 1583, doi. 10.1007/s00415-016-8384-9
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- Article
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
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- Neurogenetics, 2017, v. 18, n. 3, p. 175, doi. 10.1007/s10048-017-0518-4
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- Article
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
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- Cerebellum, 2017, v. 16, n. 3, p. 742, doi. 10.1007/s12311-017-0843-z
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- Article
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry.
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- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174560
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- Article
Long-term follow-up in spastic paraplegia due to SPG56/ CYP2U1: age-dependency rather than genetic variability?
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- 2017
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- Publication type:
- Letter
Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).
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- Frontiers in Genetics, 2017, v. 8, p. 1, doi. 10.3389/fgene.2017.00018
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- Publication type:
- Article
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3004, doi. 10.1002/ajmg.a.37836
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- Article
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
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- Article
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.
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- EMBO Molecular Medicine, 2016, v. 8, n. 10, p. 1197, doi. 10.15252/emmm.201606391
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- Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
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- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0656-3
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- Article
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.
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- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1800, doi. 10.1177/0883073815581608
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- Article