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American Journal of Medical Genetics. Part A
|
February 26, 2004
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
Craig L Bennett, Melissa A Parisi, Melissa L Eckert, et al.
International Journal of Molecular Sciences
|
June 19, 2024
Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration
Frederick J Arnold, Alexandra F Putka, Urmimala Raychaudhuri, et al.
Molecular Neurobiology
|
November 25, 2025
The 4E-BPs as Translational Regulators in Neurological Disorders: Molecular Mechanisms and Therapeutic Potential
Sindhu S Baskarapantula, Venkata Surya Kumar, Priyajit Changdar, et al.
International Journal of Molecular Sciences
|
February 27, 2026
PPAR-Delta Agonist Therapies Did Not Rescue Hallmark Disease Phenotypes in Two Sets of Preclinical Trials in ALS TDP-43 and C9orf72 Model Mice
David T Luong, Chenchen Niu, Eunice Kim, et al.
Epilepsia
|
November 26, 2003
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
Michael J Doherty, Ian A Glass, Craig L Bennett, et al.
Plos One
|
November 19, 2013
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide
Craig L Bennett, Yingzhang Chen, Marissa Vignali, et al.
Chinese Medical Journal
|
December 18, 2010
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5
Yi-Zhi Chen, Qing Gao, Xue-Zhi Zhao, et al.
Neurobiology of Disease
|
April 29, 2006
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
Ying-Zhang Chen, Sayed H Hashemi, Susan K Anderson, 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.
American Journal of Human Genetics
|
May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 30) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
February 26, 2004
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
Craig L Bennett, Melissa A Parisi, Melissa L Eckert, et al.
International Journal of Molecular Sciences
|
June 19, 2024
Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration
Frederick J Arnold, Alexandra F Putka, Urmimala Raychaudhuri, et al.
Molecular Neurobiology
|
November 25, 2025
The 4E-BPs as Translational Regulators in Neurological Disorders: Molecular Mechanisms and Therapeutic Potential
Sindhu S Baskarapantula, Venkata Surya Kumar, Priyajit Changdar, et al.
International Journal of Molecular Sciences
|
February 27, 2026
PPAR-Delta Agonist Therapies Did Not Rescue Hallmark Disease Phenotypes in Two Sets of Preclinical Trials in ALS TDP-43 and C9orf72 Model Mice
David T Luong, Chenchen Niu, Eunice Kim, et al.
Epilepsia
|
November 26, 2003
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
Michael J Doherty, Ian A Glass, Craig L Bennett, et al.
Plos One
|
November 19, 2013
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide
Craig L Bennett, Yingzhang Chen, Marissa Vignali, et al.
Chinese Medical Journal
|
December 18, 2010
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5
Yi-Zhi Chen, Qing Gao, Xue-Zhi Zhao, et al.
Neurobiology of Disease
|
April 29, 2006
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
Ying-Zhang Chen, Sayed H Hashemi, Susan K Anderson, 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.
American Journal of Human Genetics
|
May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.
Page
of 3