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Journal of the Neurological Sciences
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June 8, 2015
A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings
Georgios Koutsis, David S Lynch, Arianna Tucci, et al.
Annals of Clinical and Translational Neurology
|
February 23, 2018
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy
David S Lynch, Viorica Chelban, Jana Vandrovcova, et al.
Plos One
|
June 18, 2015
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development
Nathalie Schmieg, Claire Thomas, Arisa Yabe, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 6, 2024
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Delia Gagliardi, Charles Wade, Arianna Tucci, et al.
Annals of Neurology
|
June 17, 2020
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
Wai Yan Yau, Roisin Sullivan, Zhongbo Chen, et al.
European Journal of Human Genetics : EJHG
|
September 17, 2015
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
David S Lynch, Georgios Koutsis, Arianna Tucci, et al.
Practical Neurology
|
May 11, 2025
Diagnosing Alexander disease in adults
David S Lynch, Charles Wade, Alise K Carlson, et al.
The American Journal of Case Reports
|
January 6, 2017
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Renata Siciliani Scalco, Paulo José Lorenzoni, David S Lynch, et al.
Journal of the Neurological Sciences
|
October 18, 2024
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
Mary Muthukumarasamy, Jeevagan Vijayabala, Thulasi Tharmalingam, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read Transcriptomics
Charles Wade, Kylie Montgomery, Gabriela E Jones, et al.
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of 6
Search research articles
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Showing results (11-20 of 53) with videos related to
Sort By:
Page
of 6
Journal of the Neurological Sciences
|
June 8, 2015
A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings
Georgios Koutsis, David S Lynch, Arianna Tucci, et al.
Annals of Clinical and Translational Neurology
|
February 23, 2018
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy
David S Lynch, Viorica Chelban, Jana Vandrovcova, et al.
Plos One
|
June 18, 2015
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development
Nathalie Schmieg, Claire Thomas, Arisa Yabe, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 6, 2024
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Delia Gagliardi, Charles Wade, Arianna Tucci, et al.
Annals of Neurology
|
June 17, 2020
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
Wai Yan Yau, Roisin Sullivan, Zhongbo Chen, et al.
European Journal of Human Genetics : EJHG
|
September 17, 2015
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
David S Lynch, Georgios Koutsis, Arianna Tucci, et al.
Practical Neurology
|
May 11, 2025
Diagnosing Alexander disease in adults
David S Lynch, Charles Wade, Alise K Carlson, et al.
The American Journal of Case Reports
|
January 6, 2017
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Renata Siciliani Scalco, Paulo José Lorenzoni, David S Lynch, et al.
Journal of the Neurological Sciences
|
October 18, 2024
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
Mary Muthukumarasamy, Jeevagan Vijayabala, Thulasi Tharmalingam, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read Transcriptomics
Charles Wade, Kylie Montgomery, Gabriela E Jones, et al.
Page
of 6