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De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01277-5
By:
- Hadjinicolaou, Aristides;
- Ngo, Kathie J.;
- Conway, Daniel Y.;
- Provias, John P.;
- Baker, Steven K.;
- Brady, Lauren I.;
- Bennett, Craig L.;
- La Spada, Albert R.;
- Fogel, Brent L.;
- Yoon, Grace
Publication type:
Article
FREQUENCIES OF VARIANTS OF CANDIDATE GENES IN DIFFERENT AGE GROUPS OF HYPERTENSIVES.
Published in:
Clinical & Experimental Pharmacology & Physiology, 1994, v. 21, n. 11, p. 925, doi. 10.1111/j.1440-1681.1994.tb02468.x
By:
- Zee, Robert Y. L.;
- Bennett, Craig L.;
- Schrader, Andrew P.;
- Morris, Brian J.
Publication type:
Article
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1167, doi. 10.1111/j.1528-1167.2008.01816.x
By:
- Bennett, Craig L.;
- Chen, Yingzhang;
- Hahn, Sihoun;
- Glass, Ian A.;
- Gospe Jr., Sidney M.
Publication type:
Article
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 12, p. 1529, doi. 10.1111/j.0013-9580.2003.61702.x
By:
- Doherty, Michael J.;
- Glass, Ian A.;
- Bennett, Craig L.;
- Cotter, Phil D.;
- Watson, Nate F.;
- Mitchell, Anna L.;
- Bird, Tom D.;
- Farrell, Don F.
Publication type:
Article
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1745
By:
- Bennett, Craig L.;
- La Spada, Albert R.
Publication type:
Article
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Published in:
Nature Genetics, 2001, v. 27, n. 1, p. 20, doi. 10.1038/83713
By:
- Bennett, Craig L.;
- Christie, Jacinda;
- Ramsdell, Fred;
- Brunkow, Mary E.;
- Ferguson, Polly J.;
- Whitesell, Luke;
- Kelly, Thaddeus E.;
- Saulsbury, Frank T.;
- Chance, Phillip F.;
- Ochs, Hans D.
Publication type:
Article
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.
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078837
By:
- Bennett, Craig L.;
- Chen, Yingzhang;
- Vignali, Marissa;
- Lo, Russell S.;
- Mason, Amanda G.;
- Unal, Asli;
- Huq Saifee, Nabiha P.;
- Fields, Stanley;
- La Spada, Albert R.
Publication type:
Article
SIMPLE interacts with NEDD4 and TSG101: Evidence for a role in lysosomal sorting and implications for Charcot‐Marie‐Tooth disease.
Published in:
Journal of Neuroscience Research, 2005, v. 82, n. 1, p. 43, doi. 10.1002/jnr.20628
By:
- Andrew J. Shirk;
- Susan K. Anderson;
- Sayed H. Hashemi;
- Phillip F. Chance;
- Craig L. Bennett
Publication type:
Article
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01665-z
By:
- Bennett, Craig L.;
- Dastidar, Somasish;
- Arnold, Frederick J.;
- McKinstry, Spencer U.;
- Stockford, Cameron;
- Freibaum, Brian D.;
- Sopher, Bryce L.;
- Wu, Meilin;
- Seidner, Glen;
- Joiner, William;
- Taylor, J. Paul;
- West, Ryan J. H.;
- La Spada, Albert R.
Publication type:
Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Published in:
Annals of Neurology, 2004, v. 55, n. 5, p. 713
By:
- Craig L. Bennett;
- Andrew J. Shirk;
- Huy M. Huynh;
- Valerie A. Street;
- Eva Nelis;
- Lionel Van Maldergem;
- Peter De Jonghe;
- Albena Jordanova;
- Velina Guergueltcheva;
- Ivailo Tournev;
- Peter Van den Bergh;
- Pavel Seeman;
- Radim Mazanec;
- Tomas Prochazka;
- Ivo Kremensky;
- Jana Haberlova;
- Michael D. Weiss;
- Vincent Timmerman
Publication type:
Article
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Published in:
Acta Neuropathologica, 2018, v. 136, n. 3, p. 425, doi. 10.1007/s00401-018-1852-9
By:
- Bennett, Craig L.;
- Dastidar, Somasish G.;
- Ling, Shuo-Chien;
- Malik, Bilal;
- Ashe, Travis;
- Wadhwa, Mandheer;
- Miller, Derek B.;
- Lee, Changwoo;
- Mitchell, Matthew B.;
- Van Es, Michael A.;
- Grunseich, Christopher;
- Chen, Yingzhang;
- Sopher, Bryce L.;
- Greensmith, Linda;
- Cleveland, Don W.;
- La Spada, Albert R.
Publication type:
Article
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome.
Published in:
Immunogenetics, 2001, v. 53, n. 6, p. 435, doi. 10.1007/s002510100358
By:
- Bennett, Craig L.;
- Brunkow, Mary E.;
- Ramsdell, Fred;
- O'Briant, Kathy C.;
- Qili Zhu;
- Fuleihan, Ramsay L.;
- Shigeoka, Ann O.;
- Ochs, Hans D.;
- Chance, Phillip F.
Publication type:
Article
Revisiting Glutamate Excitotoxicity in Amyotrophic Lateral Sclerosis and Age-Related Neurodegeneration.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5587, doi. 10.3390/ijms25115587
By:
- Arnold, Frederick J.;
- Putka, Alexandra F.;
- Raychaudhuri, Urmimala;
- Hsu, Solomon;
- Bedlack, Richard S.;
- Bennett, Craig L.;
- La Spada, Albert R.
Publication type:
Article
Letter To The Editor New gene for CMT.
Published in:
2003
By:
- Street, Valerie A.;
- Bennett, Craig L.;
- Bird, Thomas D.;
- Chance, Phillip F.
Publication type:
Letter

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