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1.

Mutation update for the SATB2 gene.

Zarate, Yuri A; Bosanko, Katherine A; Caffrey, Aisling R; Bernstein, Jonathan A; Martin, Donna M; Williams, Marc S; Berry-Kravis, Elizabeth M; Mark, Paul R; Manning, Melanie A; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H; Estrada-Veras, Juvianee I; van Dooren, Marieke F; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P; Maarup, Timothy J; Alsters, Suzanne Im; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M; Turner, Lesley; Raggio, Víctor; Spangenberg, Lucía; Garcia-Miñaúr, Sixto; Roeder, Elizabeth R; Littlejohn, Rebecca O; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.

Hum Mutat ; 40(8): 1013-1029, 2019 08.

Article in English | MEDLINE | ID: mdl-31021519

2.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, Solange; Chong, Shuk Ching; Bower, Matthew; Monaghan, Kristin G; Willaert, Rebecca; Plona, Maria-Renee; Dineen, Rich; Milan, Francisca; Hoganson, George; Powis, Zoe; Helbig, Katherine L; Keller-Ramey, Jennifer; Harris, Belinda; Anderson, Laura C; Green, Torrian; Sukoff Rizzo, Stacey J; Kaylor, Julie; Chen, Jiani; Guan, Min-Xin; Sellars, Elizabeth; Sparagana, Steven P; Gibson, James B; Reinholdt, Laura G; Tang, Sha; Huang, Taosheng.

Hum Mol Genet ; 26(24): 4937-4950, 2017 12 15.

Article in English | MEDLINE | ID: mdl-29040572

3.

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

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.

Am J Med Genet A ; 173(3): 771-775, 2017 Mar.

Article in English | MEDLINE | ID: mdl-28211972

4.

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.

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.

Nephrol Dial Transplant ; 29(6): 1203-10, 2014 Jun.

Article in English | MEDLINE | ID: mdl-24729041

5.

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

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.

Hum Mutat ; 34(1): 167-75, 2013 Jan.

Article in English | MEDLINE | ID: mdl-22903760

6.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

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.

Hum Mutat ; 33(3): 476-9, 2012 Mar.

Article in English | MEDLINE | ID: mdl-22161988

7.

Pharmacokinetics and Tolerability of Multiple Doses of Pharmaceutical-Grade Synthetic Cannabidiol in Pediatric Patients with Treatment-Resistant Epilepsy.

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.

CNS Drugs ; 33(6): 593-604, 2019 06.

Article in English | MEDLINE | ID: mdl-31049885

8.

Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex.

Sparagana, Steven P; Delgado, Mauricio R; Batchelor, Lori L; Roach, E Steve.

Arch Neurol ; 60(9): 1286-9, 2003 Sep.

Article in English | MEDLINE | ID: mdl-12975296

9.

Electroencephalography in holoprosencephaly: findings in children without epilepsy.

Hahn, Jin S; Delgado, Mauricio R; Clegg, Nancy J; Sparagana, Steven P; Gerace, Kandy L; Barkovich, A James; Olson, Donald M.

Clin Neurophysiol ; 114(10): 1908-17, 2003 Oct.

Article in English | MEDLINE | ID: mdl-14499753

10.

Diagnosis of tuberous sclerosis complex.

Roach, E Steve; Sparagana, Steven P.

J Child Neurol ; 19(9): 643-9, 2004 Sep.

Article in English | MEDLINE | ID: mdl-15563009

11.

Microneurosurgery for neonatal brachial plexus palsy: The need for more information.

Sparagana, Steven P; Ezaki, Marybeth.

Arch Neurol ; 63(7): 1033-4, 2006 Jul.

Article in English | MEDLINE | ID: mdl-16831978

12.

mTORC1 inhibition for epilepsy in TSC: Feasibility in question.

Sparagana, Steven P.

Neurology ; 87(10): 974-5, 2016 09 06.

Article in English | MEDLINE | ID: mdl-27511184

13.

Optic nerve tumor in tuberous sclerosis complex is not responsive to sirolimus.

Sparagana, Steven P; Wilkes, David C; Thompson, Catherine E; Bowers, Daniel C.

Pediatr Neurol ; 42(6): 443-6, 2010 Jun.

Article in English | MEDLINE | ID: mdl-20472200

14.

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au, Kit Sing; Williams, Aimee T; Roach, E Steve; Batchelor, Lori; Sparagana, Steven P; Delgado, Mauricio R; Wheless, James W; Baumgartner, James E; Roa, Benjamin B; Wilson, Carolyn M; Smith-Knuppel, Teresa K; Cheung, Min-Yuen C; Whittemore, Vicky H; King, Terri M; Northrup, Hope.

Genet Med ; 9(2): 88-100, 2007 Feb.

Article in English | MEDLINE | ID: mdl-17304050

15.

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Ou, Zhishuo; Jarmuz, Malgorzata; Sparagana, Steven P; Michaud, Jacques; Décarie, Jean-Claude; Yatsenko, Svetlana A; Nowakowska, Beata; Furman, Patti; Shaw, Chad A; Shaffer, Lisa G; Lupski, James R; Chinault, A Craig; Cheung, Sau W; Stankiewicz, Pawel.

Hum Genet ; 120(2): 227-37, 2006 Sep.

Article in English | MEDLINE | ID: mdl-16791615

16.

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex.

Ewalt, David H; Diamond, Norman; Rees, Chet; Sparagana, Steven P; Delgado, Mauricio; Batchelor, Lori; Roach, E Steve.

J Urol ; 174(5): 1764-6, 2005 Nov.

Article in English | MEDLINE | ID: mdl-16217279

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