Search Results - "Miravite, Joan"
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Neuropsychiatric characteristics of GBA-associated Parkinson disease
Published in Journal of the neurological sciences (15-11-2016)“…Abstract Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor…”
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Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease
Published in NPJ Parkinson's Disease (07-12-2023)“…There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants…”
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A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01-01-2017)“…BACKGROUNDHigh-frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia. CASE REPORTWe report a case of…”
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Exploring DBS Outcomes in Dystonia (P8-3.005)
Published in Neurology (09-04-2024)“…Abstract only…”
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Lessons Learned from Open-label Deep Brain Stimulation for Tourette Syndrome: Eight Cases over 7 Years
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (01-11-2013)“…BACKGROUNDDeep brain stimulation (DBS) remains an experimental but promising treatment for patients with severe refractory Gilles de la Tourette syndrome (TS)…”
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Deep Brain Stimulation in DYT1 Dystonia: A 10-Year Experience
Published in Neurosurgery (01-07-2013)“…BACKGROUND:Globus Pallidus Interna (GPi) deep brain stimulation (DBS) is an effective treatment for DYT1-associated dystonia, but long-term results are…”
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Clinically Important Change in the Fahn-Marsden Dystonia Rating Scale (FMDRS) Movement Subscale (4455)
Published in Neurology (14-04-2020)“…Abstract only…”
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Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism
Published in Movement disorders (01-11-2022)“…Background Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex‐distribution among…”
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Deep Brain Stimulation in an Additional Patient With ADCY5-Related Movement Disorder
Published in Journal of child neurology (01-03-2017)Get full text
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Positive Outcome After the First GPi DBS Implantation in a Patient with an ADCY5 Related Movement Disorder (P1.077)
Published in Neurology (05-04-2016)“…Abstract only…”
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The minimal clinically important change in the motor section of the Burke-Fahn-Marsden Dystonia Rating Scale for generalized dystonia: Results from deep brain stimulation
Published in Parkinsonism & related disorders (01-12-2021)“…The minimal clinically important difference (MCID) describes the smallest change in an outcome that is considered clinically meaningful. The Burke-Fahn-Marsden…”
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Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium
Published in Neurology (07-07-2015)“…OBJECTIVE:Estimates of the penetrance of LRRK2 G2019S vary widely (24%–100%), reflective of differences in ascertainment, age, sex, ethnic group, and genetic…”
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Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease
Published in Journal of neurosurgery (01-07-2022)“…The objective of this study was to evaluate clinical features and response to deep brain stimulation (DBS) in G2019S LRRK2-Parkinson disease (LRRK2-PD) and…”
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Deep Brain Stimulation of the Pallidofugal Pathways to Rescue Severe Life-Threatening Dyskinesias after STN-DBS Lead Implantation
Published in Stereotactic and functional neurosurgery (01-03-2022)“…We present a patient with severe life-threatening dyskinesias due to a persistent microlesion effect after STN-DBS electrode implantation. The pallidofugal…”
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Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations
Published in Movement disorders (01-12-2013)“…ABSTRACT The phenotype of Parkinson's disease (PD) in patients with and without leucine‐rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar;…”
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Longitudinal outcomes of LRRK2 gene mutation parkinsonism undergoing either Subthalamic Nucleus (STN) or Globus Pallidus Internus (GPi) Deep-Brain stimulation (DBS): a multi-group comparison (P1.8-029)
Published in Neurology (09-04-2019)“…Abstract only…”
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Long-term outcomes of late deep brain stimulation in DYT1 dystonia (P4.8-002)
Published in Neurology (09-04-2019)“…Abstract only…”
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Psychiatric and Cognitive Effects of Deep Brain Stimulation for Parkinson’s Disease
Published in Current Neurology and Neuroscience Reports (01-10-2016)“…Deep brain stimulation (DBS) is effective for Parkinson’s disease (PD), dystonia, and essential tremor (ET). While motor benefits are well documented,…”
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Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers
Published in Neurology (27-01-2015)“…OBJECTIVE:We investigated system-level corticostriatal changes in a human model of premotor Parkinson disease (PD), i.e., healthy carriers of the G2019S LRRK2…”
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Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease
Published in Parkinsonism & related disorders (01-02-2015)“…Abstract Background Ashkenazi Jewish (AJ) LRRK2 carriers are more likely to manifest the postural instability gait difficulty (PIGD) motor phenotype than…”
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