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European Journal of Human Genetics : EJHG
|
January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Gina L O'Grady, Alan Ma, Deborah Sival, et al.
Ebiomedicine
|
March 26, 2025
Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate
Jingya Yan, Velda X Han, Hannah F Jones, et al.
Annals of Clinical and Translational Neurology
|
June 21, 2023
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes
Russell C Dale, Terrence Thomas, Shrujna Patel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2018
Nusinersen for SMA: expanded access programme
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Neuromuscular Disorders : NMD
|
January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Yiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Neurology
|
June 28, 2023
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease
Gabrielle A Donlevy, Kayla M D Cornett, Sarah P Garnett, et al.
Annals of Clinical and Translational Neurology
|
August 8, 2020
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Kayla M D Cornett, Manoj P Menezes, Paula Bray, et al.
Annals of Neurology
|
August 11, 2017
Natural history of Charcot-Marie-Tooth disease during childhood
Kayla M D Cornett, Manoj P Menezes, Rosemary R Shy, et al.
Archives of Disease in Childhood
|
July 26, 2020
Psychiatric comorbidity is common in dystonia and other movement disorders
Michelle S Lorentzos, Isobel Heyman, Benjamin J Baig, et al.
Muscle & Nerve
|
April 27, 2019
Balance impairment in pediatric charcot-marie-tooth disease
Timothy Estilow, Allan M Glanzman, Joshua Burns, et al.
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of 7
Search research articles
Search
Showing results (41-50 of 68) with videos related to
Sort By:
Page
of 7
European Journal of Human Genetics : EJHG
|
January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Gina L O'Grady, Alan Ma, Deborah Sival, et al.
Ebiomedicine
|
March 26, 2025
Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate
Jingya Yan, Velda X Han, Hannah F Jones, et al.
Annals of Clinical and Translational Neurology
|
June 21, 2023
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes
Russell C Dale, Terrence Thomas, Shrujna Patel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2018
Nusinersen for SMA: expanded access programme
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Neuromuscular Disorders : NMD
|
January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Yiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Neurology
|
June 28, 2023
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease
Gabrielle A Donlevy, Kayla M D Cornett, Sarah P Garnett, et al.
Annals of Clinical and Translational Neurology
|
August 8, 2020
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Kayla M D Cornett, Manoj P Menezes, Paula Bray, et al.
Annals of Neurology
|
August 11, 2017
Natural history of Charcot-Marie-Tooth disease during childhood
Kayla M D Cornett, Manoj P Menezes, Rosemary R Shy, et al.
Archives of Disease in Childhood
|
July 26, 2020
Psychiatric comorbidity is common in dystonia and other movement disorders
Michelle S Lorentzos, Isobel Heyman, Benjamin J Baig, et al.
Muscle & Nerve
|
April 27, 2019
Balance impairment in pediatric charcot-marie-tooth disease
Timothy Estilow, Allan M Glanzman, Joshua Burns, et al.
Page
of 7