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Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 886, doi. 10.1002/mdc3.13516
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- Publication type:
- Article
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 33, doi. 10.1002/mdc3.13098
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- Publication type:
- Article
How Do I Assess a Family Tree for Inheritance Patterns?
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- Movement Disorders Clinical Practice, 2018, v. 5, n. 4, p. 453, doi. 10.1002/mdc3.12661
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- Publication type:
- Article
Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 1, p. 36, doi. 10.1002/mdc3.12438
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- Publication type:
- Article
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 4, p. 413, doi. 10.1002/mdc3.12183
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- Publication type:
- Article
Primary familial brain calcification: update on molecular genetics.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 5, p. 787, doi. 10.1007/s10072-015-2110-8
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- Publication type:
- Article
Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.
- Published in:
- 2015
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- Publication type:
- commentary
A Balanced Translocation Disrupting BCL2L10 and PNLDC1 Segregates With Affective Psychosis.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 3, p. 214, doi. 10.1002/ajmg.b.32465
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- Publication type:
- Article
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
- Published in:
- PLoS ONE, 2023, v. 18, n. 10, p. 1, doi. 10.1371/journal.pone.0292180
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- Publication type:
- Article
Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.
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- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 112, doi. 10.4103/jpn.JPN_148_16
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- Publication type:
- Article
Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069190
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- Publication type:
- Article
Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048911
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- Publication type:
- Article
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15).
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- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016983
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- Publication type:
- Article
Is GIGYF2 the defective gene at the PARK11 locus?
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- Current Neurology & Neuroscience Reports, 2009, v. 9, n. 3, p. 185, doi. 10.1007/s11910-009-0028-3
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- Publication type:
- Article
Recent advances in the genetics of dementia with Lewy bodies.
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- Current Neurology & Neuroscience Reports, 2008, v. 8, n. 3, p. 187, doi. 10.1007/s11910-008-0030-1
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- Publication type:
- Article
Common neurodegenerative diseases: Dissection by genome-wide association.
- Published in:
- Current Neurology & Neuroscience Reports, 2007, v. 7, n. 5, p. 425, doi. 10.1007/s11910-007-0065-8
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- Publication type:
- Article
The pleomorphic pathology of inherited parkinson’s disease: Lessons from LRRK2.
- Published in:
- Current Neurology & Neuroscience Reports, 2006, v. 6, n. 5, p. 355, doi. 10.1007/s11910-996-0013-z
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- Publication type:
- Article
Progress in the genetics of progressive supranuclear palsy: Tau gene and beyond.
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- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 6, p. 419, doi. 10.1007/s11910-005-0027-y
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- Publication type:
- Article
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
- Published in:
- 2002
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- Publication type:
- Letter
Frontal lobe dysfunction in essential tremor : A preliminary study.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 5, p. 399, doi. 10.1007/s004150170181
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- Publication type:
- Article
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease.
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- Journal of Molecular Medicine, 2004, v. 82, n. 3, p. 163, doi. 10.1007/s00109-003-0512-1
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- Publication type:
- Article
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7
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- Publication type:
- Article
Parkinson's Disease: The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1061, doi. 10.1038/sj.ejhg.5201695
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- Publication type:
- Article
PARK11 is not linked with Parkinson's disease in European families.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 193, doi. 10.1038/sj.ejhg.5201317
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- Publication type:
- Article
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
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- EMBO Journal, 2017, v. 36, n. 10, p. 1392, doi. 10.15252/embj.201695773
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- Publication type:
- Article
LRP10 and α-synuclein transmission in Lewy body diseases.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05135-0
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- Publication type:
- Article
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
- Published in:
- 2014
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- Publication type:
- journal article
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1361
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- Publication type:
- Article
LRRK2 Low-penetrance Mutations (Gly2019Ser) and Risk Alleles (Gly2385Arg)âLinking Familial and Sporadic Parkinsonâs Disease.
- Published in:
- Neurochemical Research, 2007, v. 32, n. 10, p. 1700, doi. 10.1007/s11064-007-9324-y
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- Publication type:
- Article
Reply.
- Published in:
- 2016
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- Publication type:
- commentary
Homozygous PINK1 C‐terminus mutation causing early‐onset parkinsonism.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 3, p. 427
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- Publication type:
- Article
DJ-1 colocalizes with tau inclusions: A link between parkinsonism and dementia.
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- Annals of Neurology, 2004, v. 55, n. 1, p. 113
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- Publication type:
- Article
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
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- Annals of Neurology, 2003, v. 54, n. 2, p. 271
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- Publication type:
- Article
How much phenotypic variation can be attributed to parkin genotype?
- Published in:
- Annals of Neurology, 2003, v. 54, n. 2, p. 176
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- Publication type:
- Article
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
- Published in:
- 2002
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- Publication type:
- journal article
PARK6-linked parkinsonism occurs in several European families.
- Published in:
- 2002
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- Publication type:
- journal article
Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.
- Published in:
- 2014
- By:
- Publication type:
- Letter
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80564-y
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- Publication type:
- Article
Parkinson's disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 6, p. N.PAG, doi. 10.1038/s41419-019-1679-x
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- Publication type:
- Article
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-018-0410-7
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- Publication type:
- Article
Gene Expression Differences in Peripheral Blood of Parkinson’s Disease Patients with Distinct Progression Profiles.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157852
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- Publication type:
- Article
Genetic Testing in Parkinson's Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1384, doi. 10.1002/mds.29500
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- Publication type:
- Article
International Genetic Testing and Counseling Practices for Parkinson's Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1527, doi. 10.1002/mds.29442
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- Publication type:
- Article
Defining the Riddle in Order to Solve It: There Is More Than One "Parkinson's Disease".
- Published in:
- Movement Disorders, 2023, v. 38, n. 7, p. 1127, doi. 10.1002/mds.29419
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- Publication type:
- Article
Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?
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- Movement Disorders, 2022, v. 37, n. 11, p. 2310, doi. 10.1002/mds.29202
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- Publication type:
- Article
Isolated Paroxysmal Non‐kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family.
- Published in:
- Movement Disorders, 2022, v. 37, n. 10, p. 2166, doi. 10.1002/mds.29158
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- Publication type:
- Article
AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 874, doi. 10.1002/mds.28928
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- Publication type:
- Article
GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort.
- Published in:
- Movement Disorders, 2020, v. 35, n. 11, p. 2106, doi. 10.1002/mds.28195
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- Publication type:
- Article
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 1, p. 117, doi. 10.1007/s00401-021-02313-3
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- Publication type:
- Article
Mortality Rates for Parkinson's Disease and Parkinsonism in Italy (1969-1987).
- Published in:
- Neuroepidemiology, 1992, v. 11, n. 2, p. 65, doi. 10.1159/000110914
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- Publication type:
- Article