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Movement Disorders Clinical Practice
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October 27, 2018
The Endless Expansion of the Phenotypic Spectrum of <i>ATP1A3</i> Mutations: A True Diagnostic Challenge
Niccolò E Mencacci
Parkinsonism & Related Disorders
|
March 22, 2019
KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
Niccolò E Mencacci, Norbert Brüggemann
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 29, 2022
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release
Francesca Magrinelli, Niccolò E Mencacci
Current Opinion in Neurology
|
June 4, 2016
Recent advances in genetics of chorea
Niccolò E Mencacci, Miryam Carecchio
Current Neurology and Neuroscience Reports
|
November 1, 2017
Emerging Monogenic Complex Hyperkinetic Disorders
Miryam Carecchio, Niccolò E Mencacci
Parkinsonism & Related Disorders
|
November 19, 2023
The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list
Sarah M Brooker, Niccolò E Mencacci
Journal of Neural Transmission (Vienna, Austria : 1996)
|
January 2, 2021
Emerging and converging molecular mechanisms in dystonia
Paulina Gonzalez-Latapi, Nicolas Marotta, Niccolò E Mencacci
Parkinsonism & Related Disorders
|
December 25, 2018
Dystonia; a roadmap is needed for future genetic studies
Ziv Gan-Or, Niccolò E Mencacci, Mike A Nalls
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
|
May 25, 2025
Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report
Cheshire Hardcastle, Ignacio J Keller Sarmiento, Niccolò E Mencacci, et al.
Clinical Genetics
|
September 7, 2022
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses
Vesna Marija van Midden, Lisa Kinsley, Avram Fraint, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 66) with videos related to
Sort By:
Page
of 7
Movement Disorders Clinical Practice
|
October 27, 2018
The Endless Expansion of the Phenotypic Spectrum of <i>ATP1A3</i> Mutations: A True Diagnostic Challenge
Niccolò E Mencacci
Parkinsonism & Related Disorders
|
March 22, 2019
KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
Niccolò E Mencacci, Norbert Brüggemann
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 29, 2022
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release
Francesca Magrinelli, Niccolò E Mencacci
Current Opinion in Neurology
|
June 4, 2016
Recent advances in genetics of chorea
Niccolò E Mencacci, Miryam Carecchio
Current Neurology and Neuroscience Reports
|
November 1, 2017
Emerging Monogenic Complex Hyperkinetic Disorders
Miryam Carecchio, Niccolò E Mencacci
Parkinsonism & Related Disorders
|
November 19, 2023
The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list
Sarah M Brooker, Niccolò E Mencacci
Journal of Neural Transmission (Vienna, Austria : 1996)
|
January 2, 2021
Emerging and converging molecular mechanisms in dystonia
Paulina Gonzalez-Latapi, Nicolas Marotta, Niccolò E Mencacci
Parkinsonism & Related Disorders
|
December 25, 2018
Dystonia; a roadmap is needed for future genetic studies
Ziv Gan-Or, Niccolò E Mencacci, Mike A Nalls
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
|
May 25, 2025
Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report
Cheshire Hardcastle, Ignacio J Keller Sarmiento, Niccolò E Mencacci, et al.
Clinical Genetics
|
September 7, 2022
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses
Vesna Marija van Midden, Lisa Kinsley, Avram Fraint, et al.
Page
of 7