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Items: 18

1.

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Schillaci LP, DeBrosse SD, McCandless SE.

Pediatr Clin North Am. 2018 Apr;65(2):209-230. doi: 10.1016/j.pcl.2017.11.003. Epub 2017 Dec 28. Review.

PMID:
29502910
2.

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM.

Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30.

PMID:
29466837
3.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.

Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.

PMID:
29036646
4.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M.

Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.

PMID:
28856709
5.

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G.

Pediatr Neurol. 2017 Aug;73:101-105. doi: 10.1016/j.pediatrneurol.2017.04.022. Epub 2017 Apr 29.

PMID:
28647130
6.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

7.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.

Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Review.

8.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK.

Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. No abstract available.

PMID:
28133733
9.

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.

Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.

10.

FHF1 (FGF12) epileptic encephalopathy.

Al-Mehmadi S, Splitt M; For DDD Study group*, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA; For CENet Study group‡.

Neurol Genet. 2016 Oct 28;2(6):e115. eCollection 2016 Dec.

11.

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gore E, Appleby BS, Cohen ML, DeBrosse SD, Leverenz JB, Miller BL, Siedlak SL, Zhu X, Lerner AJ.

Neurocase. 2016 Oct;22(5):476-483. Epub 2016 Nov 1.

12.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ.

Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.

13.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. No abstract available.

14.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

15.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA.

Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26.

PMID:
23891656
16.

Neurologic disorders due to mitochondrial DNA mutations.

Debrosse S, Parikh S.

Semin Pediatr Neurol. 2012 Dec;19(4):194-202. doi: 10.1016/j.spen.2012.09.006. Review.

PMID:
23245552
17.

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.

PMID:
23021068
18.

Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia.

DeBrosse S, Ubogu EE, Yaniglos S, Hassan MO, Leigh RJ.

Eye (Lond). 2009 Feb;23(2):382-8. Epub 2007 Oct 26.

PMID:
17962819

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