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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 771, doi. 10.1002/ajmg.a.38083
By:
- Farach, Laura S.;
- Gibson, William T.;
- Sparagana, Steven P.;
- Nellist, Mark;
- Stumpel, Connie T. R. M.;
- Hietala, Marja;
- Friedman, Elliott;
- Pearson, Deborah A.;
- Creighton, Susan P.;
- Wagemans, Annemiek;
- Segel, Reveel;
- Ben‐Shalom, Efrat;
- Au, Kit Sing;
- Northrup, Hope
Publication type:
Article
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2003, doi. 10.1002/ajmg.a.36605
By:
- Filges, Isabel;
- Sparagana, Steven;
- Sargent, Michael;
- Selby, Kathryn;
- Schlade‐Bartusiak, Kamilla;
- Lueder, Gregg T.;
- Robichaux‐Viehoever, Amy;
- Schlaggar, Bradley L.;
- Shimony, Joshua S.;
- Shinawi, Marwan
Publication type:
Article
Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Published in:
Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7
By:
- Ou, Zhishuo;
- Jarmuż, Małgorzata;
- Sparagana, Steven;
- Michaud, Jacques;
- Décarie, Jean-Claude;
- Yatsenko, Svetlana;
- Nowakowska, Beata;
- Furman, Patti;
- Shaw, Chad;
- Shaffer, Lisa;
- Lupski, James;
- Chinault, A.;
- Cheung, Sau;
- Stankiewicz, Paweł
Publication type:
Article
Pharmacokinetics and Tolerability of Multiple Doses of Pharmaceutical-Grade Synthetic Cannabidiol in Pediatric Patients with Treatment-Resistant Epilepsy.
Published in:
2019
By:
- Wheless, James W.;
- Dlugos, Dennis;
- Miller, Ian;
- Oh, D. Alexander;
- Parikh, Neha;
- Phillips, Steven;
- Renfroe, J. Ben;
- Roberts, Colin M.;
- Saeed, Isra;
- Sparagana, Steven P.;
- Yu, Jin;
- Cilio, Maria Roberta;
- INS011-14-029 Study Investigators
Publication type:
journal article
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).
Published in:
2021
By:
- de Vries, Petrus J.;
- Leclezio, Loren;
- Gardner-Lubbe, Sugnet;
- Krueger, Darcy;
- Sahin, Mustafa;
- Sparagana, Steven;
- De Waele, Liesbeth;
- Jansen, Anna
Publication type:
journal article
Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 2, p. 426, doi. 10.1111/epi.17150
By:
- Thiele, Elizabeth A.;
- Bebin, E. Martina;
- Filloux, Francis;
- Kwan, Patrick;
- Loftus, Rachael;
- Sahebkar, Farhad;
- Sparagana, Steven;
- Wheless, James
Publication type:
Article
Change in corpus allatum function during metamorphosis of the tobacco hornworm Manduca sexta: Regulation at the terminal step in juvenile hormone biosynthesis.
Published in:
Archives of Insect Biochemistry & Physiology, 1986, v. 3, n. 4, p. 321, doi. 10.1002/arch.940030402
By:
- Bhaskaran, Govindan;
- Sparagana, Steven P.;
- Barrera, Punnee;
- Dahm, Karl H.
Publication type:
Article
Juvenile hormone acid methyltransferase activity in imaginal discs of Manduca sexta prepupae.
Published in:
Archives of Insect Biochemistry & Physiology, 1985, v. 2, n. 2, p. 191, doi. 10.1002/arch.940020207
By:
- Sparagana, Steven P.;
- Bhaskaran, Govindan;
- Barrera, Punnee
Publication type:
Article
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 1, p. 101, doi. 10.1007/s00467-017-3806-1
By:
- Bissler, John J.;
- Franz, David N.;
- Frost, Michael D.;
- Belousova, Elena;
- Bebin, E. Martina;
- Sparagana, Steven;
- Berkowitz, Noah;
- Ridolfi, Antonia;
- Kingswood, J. Christopher
Publication type:
Article
Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0158476
By:
- Franz, David N.;
- Belousova, Elena;
- Sparagana, Steven;
- Bebin, E. Martina;
- Frost, Michael D.;
- Kuperman, Rachel;
- Witt, Olaf;
- Kohrman, Michael H.;
- Flamini, J. Robert;
- Wu, Joyce Y.;
- Curatolo, Paolo;
- de Vries, Petrus J.;
- Berkowitz, Noah;
- Niolat, Julie;
- Jóźwiak, Sergiusz
Publication type:
Article
Abnormal Sudomotor Function in the Hypomelanotic Macules of Tuberous Sclerosis Complex.
Published in:
Journal of Child Neurology, 2000, v. 15, n. 8, p. 529, doi. 10.1177/088307380001500806
By:
- Chudnow, Robert S.;
- Wolfe, Gil I.;
- Sparagana, Steven P.;
- Delgado, Mauricio R.;
- Batchelor, Lori;
- Roach, Steve
Publication type:
Article
Early Diagnosis of Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis.
Published in:
Journal of Child Neurology, 1998, v. 13, n. 4, p. 173
By:
- Torres, Orlando A.;
- Roach, E.S.;
- Delgado, Mauricio R.;
- Sparagana, Steven P.;
- Sheffield, Eugene;
- Swift, Dale;
- Bruce, Derek
Publication type:
Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 364, doi. 10.1002/humu.22951
By:
- Ekong, Rosemary;
- Nellist, Mark;
- Hoogeveen‐Westerveld, Marianne;
- Wentink, Marjolein;
- Panzer, Jessica;
- Sparagana, Steven;
- Emmett, Warren;
- Dawson, Natalie L.;
- Malinge, Marie Claire;
- Nabbout, Rima;
- Carbonara, Caterina;
- Barberis, Marco;
- Padovan, Sergio;
- Futema, Marta;
- Plagnol, Vincent;
- Humphries, Steve E.;
- Migone, Nicola;
- Povey, Sue
Publication type:
Article
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.
Published in:
Human Mutation, 2013, v. 34, n. 2, p. 409, doi. 10.1002/humu.22256
By:
- Hoogeveen‐Westerveld, Marianne;
- Ekong, Rosemary;
- Povey, Sue;
- Mayer, Karin;
- Lannoy, Nathalie;
- Elmslie, Frances;
- Bebin, Martina;
- Dies, Kira;
- Thompson, Catherine;
- Sparagana, Steven P.;
- Davies, Peter;
- van Eeghen, Agnies M.;
- Thiele, Elizabeth A.;
- van den Ouweland, Ans;
- Halley, Dicky;
- Nellist, Mark
Publication type:
Article
Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.
Published in:
Human Mutation, 2013, v. 34, n. 1, p. 167, doi. 10.1002/humu.22202
By:
- Hoogeveen‐Westerveld, Marianne;
- Ekong, Rosemary;
- Povey, Sue;
- Mayer, Karin;
- Lannoy, Nathalie;
- Elmslie, Frances;
- Bebin, Martina;
- Dies, Kira;
- Thompson, Catherine;
- Sparagana, Steven P.;
- Davies, Peter;
- van den Ouweland, Ans;
- Halley, Dicky;
- Nellist, Mark
Publication type:
Article
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Published in:
Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007
By:
- Hoogeveen-Westerveld, Marianne;
- Ekong, Rosemary;
- Povey, Sue;
- Karbassi, Izabela;
- Batish, Sat Dev;
- den Dunnen, Johan T.;
- van Eeghen, Agnies;
- Thiele, Elizabeth;
- Mayer, Karin;
- Dies, Kira;
- Wen, Li;
- Thompson, Catherine;
- Sparagana, Steven P.;
- Davies, Peter;
- Aalfs, Cora;
- van den Ouweland, Ans;
- Halley, Dicky;
- Nellist, Mark
Publication type:
Article
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. 6, p. 1203, doi. 10.1093/ndt/gfu013
By:
- Kingswood, J. Chris;
- Jozwiak, Sergiusz;
- Belousova, Elena D.;
- Frost, Michael D.;
- Kuperman, Rachel A.;
- Bebin, E. Martina;
- Korf, Bruce R.;
- Flamini, J. Robert;
- Kohrman, Michael H.;
- Sparagana, Steven P.;
- Wu, Joyce Y.;
- Brechenmacher, Thomas;
- Stein, Karen;
- Berkowitz, Noah;
- Bissler, John J.;
- Franz, David N.
Publication type:
Article
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Published in:
Annals of Neurology, 2000, v. 47, n. 4, p. 517, doi. 10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B
By:
- Furukawa, Yoshiaki;
- Guttman, Mark;
- Sparagana, Steven P.;
- Trugman, Joel M.;
- Hyland, Keith;
- Wyatt, Philip;
- Lang, Anthony E.;
- Rouleau, Guy A.;
- Shimadzu, Mitsunobu;
- Kish, Stephen J.
Publication type:
Article
A Wireless System for Monitoring Transcranial Motor Evoked Potentials.
Published in:
Annals of Biomedical Engineering, 2011, v. 39, n. 1, p. 517, doi. 10.1007/s10439-010-0152-x
By:
- Farajidavar, Aydin;
- Seifert, Jennifer;
- Bell, Jennifer;
- Seo, Young-Sik;
- Delgado, Mauricio;
- Sparagana, Steven;
- Romero, Mario;
- Chiao, J.-C.
Publication type:
Article
Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186235
By:
- Sparagana, Steven;
- Franz, David N.;
- Krueger, Darcy A.;
- Bissler, John J.;
- Berkowitz, Noah;
- Burock, Karin;
- Kingswood, J. Christopher
Publication type:
Article

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