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Showing results (201-210 of 324) with videos related to
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Neurology. Genetics
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May 31, 2018
Chorea-acanthocytosis: Homozygous 1-kb deletion in <i>VPS13A</i> detected by whole-genome sequencing
Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, et al.
Annals of Clinical and Translational Neurology
|
April 26, 2019
Dominant <i>LMAN2L</i> mutation causes intellectual disability with remitting epilepsy
Reem A Alkhater, Peixiang Wang, Alessandra Ruggieri, et al.
Current Pharmaceutical Design
|
August 12, 2017
Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies
Edoardo Ferlazzo, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, et al.
Epilepsia Open
|
June 12, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>
Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, et al.
Neuromuscular Disorders : NMD
|
April 8, 2015
No cardiomyopathy in X-linked myopathy with excessive autophagy
Antti Saraste, Juha W Koskenvuo, Juhani Airaksinen, et al.
Frontiers in Neurology
|
July 18, 2022
Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies
Kimberly Goodspeed, Rachel M Bailey, Suyash Prasad, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
July 1, 1997
Refocusing neutralizing antibody response by targeted dampening of an immunodominant epitope
R R Garrity, G Rimmelzwaan, A Minassian, et al.
Human Molecular Genetics
|
August 24, 2005
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
Hannes Lohi, Leonarda Ianzano, Xiao-Chu Zhao, et al.
Human Molecular Genetics
|
April 23, 2004
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
Elayne M Chan, Cameron A Ackerley, Hannes Lohi, et al.
Annals of Neurology
|
July 12, 2002
Electrophysiological findings in X-linked myopathy with excessive autophagy
Satu K Jääskeläinen, Vern C Juel, Bjarne Udd, et al.
Page
of 33
Search research articles
Search
Showing results (201-210 of 324) with videos related to
Sort By:
Page
of 33
Neurology. Genetics
|
May 31, 2018
Chorea-acanthocytosis: Homozygous 1-kb deletion in <i>VPS13A</i> detected by whole-genome sequencing
Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, et al.
Annals of Clinical and Translational Neurology
|
April 26, 2019
Dominant <i>LMAN2L</i> mutation causes intellectual disability with remitting epilepsy
Reem A Alkhater, Peixiang Wang, Alessandra Ruggieri, et al.
Current Pharmaceutical Design
|
August 12, 2017
Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies
Edoardo Ferlazzo, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, et al.
Epilepsia Open
|
June 12, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>
Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, et al.
Neuromuscular Disorders : NMD
|
April 8, 2015
No cardiomyopathy in X-linked myopathy with excessive autophagy
Antti Saraste, Juha W Koskenvuo, Juhani Airaksinen, et al.
Frontiers in Neurology
|
July 18, 2022
Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies
Kimberly Goodspeed, Rachel M Bailey, Suyash Prasad, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
July 1, 1997
Refocusing neutralizing antibody response by targeted dampening of an immunodominant epitope
R R Garrity, G Rimmelzwaan, A Minassian, et al.
Human Molecular Genetics
|
August 24, 2005
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
Hannes Lohi, Leonarda Ianzano, Xiao-Chu Zhao, et al.
Human Molecular Genetics
|
April 23, 2004
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
Elayne M Chan, Cameron A Ackerley, Hannes Lohi, et al.
Annals of Neurology
|
July 12, 2002
Electrophysiological findings in X-linked myopathy with excessive autophagy
Satu K Jääskeläinen, Vern C Juel, Bjarne Udd, et al.
Page
of 33