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Neuromuscular Disorders : NMD
|
March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
Annals of Neurology
|
November 26, 2021
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia
Mehrdad A Estiar, Noor Lail, David A Dyment, et al.
Statistical Applications in Genetics and Molecular Biology
|
July 23, 2017
Regularized estimation in sparse high-dimensional multivariate regression, with application to a DNA methylation study
Haixiang Zhang, Yinan Zheng, Grace Yoon, et al.
Annals of Clinical and Translational Neurology
|
September 15, 2017
Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Ashley McCormick, Jennifer Farmer, Susan Perlman, et al.
BMC Medical Genetics
|
August 20, 2015
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Rick van Minkelen, Miriam Guitart, Conxita Escofet, et al.
Movement Disorders Clinical Practice
|
May 11, 2026
GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, et al.
Acta Neuropathologica Communications
|
December 19, 2021
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, et al.
The Journal of Pediatrics
|
June 7, 2008
Increased indomethacin dosing for persistent patent ductus arteriosus in preterm infants: a multicenter, randomized, controlled trial
Priya Jegatheesan, Vlad Ianus, Basharat Buchh, et al.
BMC Neurology
|
March 25, 2022
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
Geert Vander Stichele, Alexandra Durr, Grace Yoon, et al.
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of 18
Search research articles
Search
Showing results (81-90 of 177) with videos related to
Sort By:
Page
of 18
Neuromuscular Disorders : NMD
|
March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
Annals of Neurology
|
November 26, 2021
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia
Mehrdad A Estiar, Noor Lail, David A Dyment, et al.
Statistical Applications in Genetics and Molecular Biology
|
July 23, 2017
Regularized estimation in sparse high-dimensional multivariate regression, with application to a DNA methylation study
Haixiang Zhang, Yinan Zheng, Grace Yoon, et al.
Annals of Clinical and Translational Neurology
|
September 15, 2017
Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Ashley McCormick, Jennifer Farmer, Susan Perlman, et al.
BMC Medical Genetics
|
August 20, 2015
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Rick van Minkelen, Miriam Guitart, Conxita Escofet, et al.
Movement Disorders Clinical Practice
|
May 11, 2026
GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, et al.
Acta Neuropathologica Communications
|
December 19, 2021
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy
Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, et al.
The Journal of Pediatrics
|
June 7, 2008
Increased indomethacin dosing for persistent patent ductus arteriosus in preterm infants: a multicenter, randomized, controlled trial
Priya Jegatheesan, Vlad Ianus, Basharat Buchh, et al.
BMC Neurology
|
March 25, 2022
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
Geert Vander Stichele, Alexandra Durr, Grace Yoon, et al.
Page
of 18