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Movement Disorders : Official Journal of the Movement Disorder Society
|
December 9, 2025
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)
Habibah A P Agianda, Julian E Alecu, Amy Tam, et al.
Journal of Medical Genetics
|
April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Annals of Clinical and Translational Neurology
|
May 5, 2021
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
Christian Rummey, John M Flynn, Louise A Corben, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Rui Zhu, Lang Liu, Mehrdad A Estiar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathies
Dana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Journal of Child Neurology
|
April 14, 2016
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
Julianna E Shinnick, Kimberly Schadt, Cassandra Strawser, et al.
Journal of the Neurological Sciences
|
January 6, 2020
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Emily Xiong, Abigail E Lynch, Louise A Corben, et al.
Clinical Epigenetics
|
November 16, 2019
Epigenetic age acceleration and metabolic syndrome in the coronary artery risk development in young adults study
Drew R Nannini, Brian T Joyce, Yinan Zheng, et al.
Cell Stem Cell
|
August 7, 2020
Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts during Wound Healing
Sepideh Abbasi, Sarthak Sinha, Elodie Labit, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
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of 18
Search research articles
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Showing results (121-130 of 177) with videos related to
Sort By:
Page
of 18
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 9, 2025
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)
Habibah A P Agianda, Julian E Alecu, Amy Tam, et al.
Journal of Medical Genetics
|
April 8, 2022
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.
Annals of Clinical and Translational Neurology
|
May 5, 2021
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
Christian Rummey, John M Flynn, Louise A Corben, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Rui Zhu, Lang Liu, Mehrdad A Estiar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathies
Dana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Journal of Child Neurology
|
April 14, 2016
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
Julianna E Shinnick, Kimberly Schadt, Cassandra Strawser, et al.
Journal of the Neurological Sciences
|
January 6, 2020
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Emily Xiong, Abigail E Lynch, Louise A Corben, et al.
Clinical Epigenetics
|
November 16, 2019
Epigenetic age acceleration and metabolic syndrome in the coronary artery risk development in young adults study
Drew R Nannini, Brian T Joyce, Yinan Zheng, et al.
Cell Stem Cell
|
August 7, 2020
Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts during Wound Healing
Sepideh Abbasi, Sarthak Sinha, Elodie Labit, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
Page
of 18