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Annals of Neurology
|
August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group
Ian H Harding, Sidhant Chopra, Filippo Arrigoni, et al.
Brain : a Journal of Neurology
|
May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, et al.
The Lancet Regional Health. Europe
|
July 18, 2025
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
Nature Protocols
|
February 5, 2022
A checklist for assessing the methodological quality of concurrent tES-fMRI studies (ContES checklist): a consensus study and statement
Hamed Ekhtiari, Peyman Ghobadi-Azbari, Axel Thielscher, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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Showing results (261-270 of 269) with videos related to
Sort By:
Page
of 27
You have reached the last page of results.
This site can display upto 269 results.
Annals of Neurology
|
August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group
Ian H Harding, Sidhant Chopra, Filippo Arrigoni, et al.
Brain : a Journal of Neurology
|
May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, et al.
The Lancet Regional Health. Europe
|
July 18, 2025
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
Nature Protocols
|
February 5, 2022
A checklist for assessing the methodological quality of concurrent tES-fMRI studies (ContES checklist): a consensus study and statement
Hamed Ekhtiari, Peyman Ghobadi-Azbari, Axel Thielscher, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Page
of 27