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Susan L Perlman

Showing results (21-30 of 58) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|October 20, 2012
C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxiaBrent L Fogel, Mochtar Pribadi, Sarah Pi, et al.
Journal of Child Neurology|August 4, 2012
Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directionsClaire N Ashley, Kelly D Hoang, David R Lynch, et al.
Human Molecular Genetics|April 27, 2017
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humansMittal J Jasoliya, Marissa Z McMackin, Chelsea K Henderson, et al.
Journal of Neurology|December 8, 2023
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohortDavid R Lynch, Teerapat Rojsajjakul, S H Subramony, et al.
Molecular Genetics and Metabolism|August 3, 2010
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxiaEric C Deutsch, Avni B Santani, Susan L Perlman, et al.
Cerebellum (London, England)|February 16, 2011
Candidate screening of the TRPC3 gene in cerebellar ataxiaEsther B E Becker, Brent L Fogel, Sanjeev Rajakulendran, et al.
Human Molecular Genetics|August 13, 2014
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxiaSunil Sahdeo, Brian D Scott, Marissa Z McMackin, 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 ataxiaAlain Martelli, Lisa S Friedman, Laurence Reutenauer, et al.
Movement Disorders Clinical Practice|January 29, 2025
Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA StudyAndreea M Rawlings, Rosalind S Chuang, Jeremy D Schmahmann, et al.
Journal of the Neurological Sciences|June 10, 2011
Mortality in Friedreich ataxiaAmy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
Movement Disorders : Official Journal of the Movement Disorder Society|October 20, 2012
C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxiaBrent L Fogel, Mochtar Pribadi, Sarah Pi, et al.
Journal of Child Neurology|August 4, 2012
Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directionsClaire N Ashley, Kelly D Hoang, David R Lynch, et al.
Human Molecular Genetics|April 27, 2017
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humansMittal J Jasoliya, Marissa Z McMackin, Chelsea K Henderson, et al.
Journal of Neurology|December 8, 2023
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohortDavid R Lynch, Teerapat Rojsajjakul, S H Subramony, et al.
Molecular Genetics and Metabolism|August 3, 2010
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxiaEric C Deutsch, Avni B Santani, Susan L Perlman, et al.
Cerebellum (London, England)|February 16, 2011
Candidate screening of the TRPC3 gene in cerebellar ataxiaEsther B E Becker, Brent L Fogel, Sanjeev Rajakulendran, et al.
Human Molecular Genetics|August 13, 2014
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxiaSunil Sahdeo, Brian D Scott, Marissa Z McMackin, 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 ataxiaAlain Martelli, Lisa S Friedman, Laurence Reutenauer, et al.
Movement Disorders Clinical Practice|January 29, 2025
Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA StudyAndreea M Rawlings, Rosalind S Chuang, Jeremy D Schmahmann, et al.
Journal of the Neurological Sciences|June 10, 2011
Mortality in Friedreich ataxiaAmy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, et al.
Pageof 6