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Orphanet Journal of Rare Diseases
|
September 28, 2017
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia
Meher Lad, Michael H Parkinson, Myriam Rai, et al.
Biochimica Et Biophysica Acta
|
December 13, 2006
Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue
Matteo Bertelli, Stefano Cecchin, Cristina Lapucci, et al.
Neurology
|
June 15, 2019
Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia
Brice Marty, Gilles Naeije, Mathieu Bourguignon, et al.
Disease Models & Mechanisms
|
June 28, 2012
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia
Alain Martelli, Lisa S Friedman, Laurence Reutenauer, et al.
FEBS Letters
|
February 20, 2002
Frataxin knockin mouse
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
August 19, 2011
Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1
Raphael Hourez, Laurent Servais, David Orduz, et al.
Orphanet Journal of Rare Diseases
|
November 12, 2022
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Louise A Corben, Veronica Collins, Sarah Milne, et al.
JAMA Neurology
|
September 29, 2015
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, et al.
Annals of Neurology
|
October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing era
Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
Cerebellum (London, England)
|
November 1, 2017
Personality and Neuropsychological Profiles in Friedreich Ataxia
Sabrina Sayah, Jean-Yves Rotgé, Hélène Francisque, et al.
Page
of 17
Search research articles
Search
Showing results (81-90 of 163) with videos related to
Sort By:
Page
of 17
Orphanet Journal of Rare Diseases
|
September 28, 2017
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia
Meher Lad, Michael H Parkinson, Myriam Rai, et al.
Biochimica Et Biophysica Acta
|
December 13, 2006
Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue
Matteo Bertelli, Stefano Cecchin, Cristina Lapucci, et al.
Neurology
|
June 15, 2019
Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia
Brice Marty, Gilles Naeije, Mathieu Bourguignon, et al.
Disease Models & Mechanisms
|
June 28, 2012
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia
Alain Martelli, Lisa S Friedman, Laurence Reutenauer, et al.
FEBS Letters
|
February 20, 2002
Frataxin knockin mouse
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
August 19, 2011
Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1
Raphael Hourez, Laurent Servais, David Orduz, et al.
Orphanet Journal of Rare Diseases
|
November 12, 2022
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Louise A Corben, Veronica Collins, Sarah Milne, et al.
JAMA Neurology
|
September 29, 2015
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia
Francoise Pousset, Lise Legrand, Marie-Lorraine Monin, et al.
Annals of Neurology
|
October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing era
Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
Cerebellum (London, England)
|
November 1, 2017
Personality and Neuropsychological Profiles in Friedreich Ataxia
Sabrina Sayah, Jean-Yves Rotgé, Hélène Francisque, et al.
Page
of 17