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Nature Reviews. Disease Primers
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October 21, 2018
Author Correction: Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Parkinsonism & Related Disorders
|
November 2, 2022
Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation
Ignacio J Keller Sarmiento, Avram Fraint, Lisa Kinsley, et al.
Parkinsonism & Related Disorders
|
April 23, 2018
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease
Bettina Balint, Elena Antelmi, Niccolò E Mencacci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 26, 2025
A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, et al.
Parkinsonism & Related Disorders
|
October 24, 2022
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease
Ignacio J Keller Sarmiento, Mitra Afshari, Lisa Kinsley, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 9, 2010
Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease
Andrea Ciammola, Jenny Sassone, Monica Sciacco, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 21, 2024
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, et al.
Journal of Parkinson'S Disease
|
August 5, 2017
GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort
Vanessa Lythe, Dilan Athauda, Jennifer Foley, et al.
Journal of Neurology
|
July 4, 2012
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations
Nicola Ticozzi, Cinzia Tiloca, Niccolò E Mencacci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 27, 2017
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations
Silvia Esposito, Miryam Carecchio, Davide Tonduti, et al.
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of 7
Search research articles
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Showing results (21-30 of 66) with videos related to
Sort By:
Page
of 7
Nature Reviews. Disease Primers
|
October 21, 2018
Author Correction: Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Parkinsonism & Related Disorders
|
November 2, 2022
Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation
Ignacio J Keller Sarmiento, Avram Fraint, Lisa Kinsley, et al.
Parkinsonism & Related Disorders
|
April 23, 2018
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease
Bettina Balint, Elena Antelmi, Niccolò E Mencacci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 26, 2025
A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, et al.
Parkinsonism & Related Disorders
|
October 24, 2022
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease
Ignacio J Keller Sarmiento, Mitra Afshari, Lisa Kinsley, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 9, 2010
Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease
Andrea Ciammola, Jenny Sassone, Monica Sciacco, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 21, 2024
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, et al.
Journal of Parkinson'S Disease
|
August 5, 2017
GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort
Vanessa Lythe, Dilan Athauda, Jennifer Foley, et al.
Journal of Neurology
|
July 4, 2012
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations
Nicola Ticozzi, Cinzia Tiloca, Niccolò E Mencacci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 27, 2017
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations
Silvia Esposito, Miryam Carecchio, Davide Tonduti, et al.
Page
of 7