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Brain : a Journal of Neurology
|
April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Adriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
American Journal of Human Genetics
|
March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
Parkinsonism & Related Disorders
|
April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
European Journal of Neurology
|
October 25, 2022
The spectrum of functional tic-like behaviours: Data from an international registry
Davide Martino, Tammy Hedderly, Tara Murphy, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Journal of Neurology
|
June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 25, 2024
ON/OFF non-motor evaluation: a new way to evaluate non-motor fluctuations in Parkinson's disease
Florent Faggianelli, Tatiana Witjas, J-P Azulay, et al.
Orphanet Journal of Rare Diseases
|
October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Cyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Journal of Neurology
|
July 10, 2025
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series
Armand Hocquel, David Pellerin, Jean Loup Méreaux, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 7, 2023
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, et al.
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of 19
Search research articles
Search
Showing results (121-130 of 189) with videos related to
Sort By:
Page
of 19
Brain : a Journal of Neurology
|
April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Adriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
American Journal of Human Genetics
|
March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
Parkinsonism & Related Disorders
|
April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
European Journal of Neurology
|
October 25, 2022
The spectrum of functional tic-like behaviours: Data from an international registry
Davide Martino, Tammy Hedderly, Tara Murphy, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Journal of Neurology
|
June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 25, 2024
ON/OFF non-motor evaluation: a new way to evaluate non-motor fluctuations in Parkinson's disease
Florent Faggianelli, Tatiana Witjas, J-P Azulay, et al.
Orphanet Journal of Rare Diseases
|
October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Cyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Journal of Neurology
|
July 10, 2025
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series
Armand Hocquel, David Pellerin, Jean Loup Méreaux, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 7, 2023
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, et al.
Page
of 19