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Items: 1 to 50 of 102

1.

A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder.

Argyriou C, Polosa A, Cecyre B, Hsieh M, Di Pietro E, Cui W, Bouchard JF, Lachapelle P, Braverman N.

Exp Eye Res. 2019 Jun 27;186:107713. doi: 10.1016/j.exer.2019.107713. [Epub ahead of print]

PMID:
31254513
2.

SHANK3 Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features.

Accogli A, Yang R, Blain-Juste ME, Braverman N, Shah J, Trakadis Y.

J Neuropsychiatry Clin Neurosci. 2019 Summer;31(3):272-275. doi: 10.1176/appi.neuropsych.18100228. Epub 2019 Mar 19. No abstract available.

PMID:
30888922
3.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE.

J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032.

PMID:
30740739
4.

Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome.

Alkhunaizi E, Braverman N.

Am J Med Genet A. 2019 Jan;179(1):130-133. doi: 10.1002/ajmg.a.60691. Epub 2018 Dec 20. No abstract available.

PMID:
30569551
5.

Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.

MacLean GE, Argyriou C, Di Pietro E, Sun X, Birjandian S, Saberian P, Hacia JG, Braverman NE.

J Cell Biochem. 2019 Mar;120(3):3243-3258. doi: 10.1002/jcb.27591. Epub 2018 Oct 26.

PMID:
30362618
6.

PPARα-mediated peroxisome induction compensates PPARγ-deficiency in bronchiolar club cells.

Karnati S, Oruqaj G, Janga H, Tumpara S, Colasante C, Van Veldhoven PP, Braverman N, Pilatz A, Mariani TJ, Baumgart-Vogt E.

PLoS One. 2018 Sep 13;13(9):e0203466. doi: 10.1371/journal.pone.0203466. eCollection 2018.

7.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M.

Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31.

PMID:
30071301
8.

Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism.

Dahabieh MS, Di Pietro E, Jangal M, Goncalves C, Witcher M, Braverman NE, Del Rincón SV.

Biochim Biophys Acta Rev Cancer. 2018 Aug;1870(1):103-121. doi: 10.1016/j.bbcan.2018.07.004. Epub 2018 Aug 6. Review.

PMID:
30012421
9.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
10.

Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.

Di Cara F, Sheshachalam A, Braverman NE, Rachubinski RA, Simmonds AJ.

Immunity. 2018 Apr 17;48(4):832-833. doi: 10.1016/j.immuni.2018.03.035. No abstract available.

11.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH.

Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8.

PMID:
29419819
12.

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Ah Mew N, Caldovic L.

Hum Mutat. 2018 Apr;39(4):527-536. doi: 10.1002/humu.23394. Epub 2018 Jan 16.

PMID:
29282796
13.

Zellweger Spectrum Disorder.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Dec 12 [updated 2017 Dec 21].

14.

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR.

Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007.

15.

Peroxisome biogenesis disorders.

Argyriou C, D'Agostino MD, Braverman N.

Transl Sci Rare Dis. 2016 Nov 7;1(2):111-144. doi: 10.3233/TRD-160003. No abstract available.

16.

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

Klouwer FCC, Braverman NE, Verkade HJ, Berendse K, Waterham HR, Wanders RJA, Poll-The BT, Koot BGP.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):e57. doi: 10.1097/MPG.0000000000001763. No abstract available.

PMID:
28953533
17.

Peroxisomes protect lymphoma cells from HDAC inhibitor-mediated apoptosis.

Dahabieh MS, Ha Z, Di Pietro E, Nichol JN, Bolt AM, Goncalves C, Dupéré-Richer D, Pettersson F, Mann KK, Braverman NE, Del Rincón SV, Miller WH Jr.

Cell Death Differ. 2017 Nov;24(11):1912-1924. doi: 10.1038/cdd.2017.115. Epub 2017 Jul 21.

18.

Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.

Di Cara F, Sheshachalam A, Braverman NE, Rachubinski RA, Simmonds AJ.

Immunity. 2017 Jul 18;47(1):93-106.e7. doi: 10.1016/j.immuni.2017.06.016. Erratum in: Immunity. 2018 Apr 17;48(4):832-833.

19.

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.

Law KB, Bronte-Tinkew D, Di Pietro E, Snowden A, Jones RO, Moser A, Brumell JH, Braverman N, Kim PK.

Autophagy. 2017 May 4;13(5):868-884. doi: 10.1080/15548627.2017.1291470.

20.

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.

Alkhunaizi E, Schrewe B, Alizadehfar R, Vézina C, Stewart GS, Braverman N.

Am J Med Genet A. 2017 Jun;173(6):1514-1520. doi: 10.1002/ajmg.a.38208. Epub 2017 Apr 21.

PMID:
28432740
21.

Obstetric anal sphincter injuries and the role of the midwife.

Liebergall-Wischnitzer M, Braverman N, Shveiky D, Noble A.

Pract Midwife. 2017 Apr;20(4):28-30.

PMID:
30549959
22.

VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis.

Hua R, Cheng D, Coyaud É, Freeman S, Di Pietro E, Wang Y, Vissa A, Yip CM, Fairn GD, Braverman N, Brumell JH, Trimble WS, Raught B, Kim PK.

J Cell Biol. 2017 Feb;216(2):367-377. doi: 10.1083/jcb.201608128. Epub 2017 Jan 20.

23.

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.

Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12.

PMID:
27616591
24.

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Rush ET, Goodwin JL, Braverman NE, Rizzo WB.

Mol Genet Metab Rep. 2016 May 23;7:94-5. doi: 10.1016/j.ymgmr.2016.05.004. eCollection 2016 Jun. No abstract available.

25.

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome.

Mikhail M, Modabber M, Koenekoop RK, Braverman N, Khan A.

Eye (Lond). 2016 Sep;30(9):1272-3. doi: 10.1038/eye.2016.100. Epub 2016 May 27. No abstract available.

26.

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M.

Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Review.

27.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.

Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8158-65. doi: 10.1167/iovs.14-15751.

28.

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Rush ET, Goodwin JL, Braverman NE, Rizzo WB.

Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24.

PMID:
26643206
29.

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB.

Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. No abstract available.

PMID:
26408048
30.

Ether lipid deficiency does not cause neutropenia or leukopenia in mice and men.

Dorninger F, Wiesinger C, Braverman NE, Forss-Petter S, Berger J.

Cell Metab. 2015 May 5;21(5):650-1. doi: 10.1016/j.cmet.2015.04.014.

31.

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

Çim A, Coşkun S, Görükmez O, Yüksel H, Uluca Ü, Pietro ED, Plourde F, Braverman NE.

J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):69-72. doi: 10.4274/jcrpe.1835.

32.

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.

33.

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP.

J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. Review.

34.

Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.

Dorninger F, Brodde A, Braverman NE, Moser AB, Just WW, Forss-Petter S, Brügger B, Berger J.

Biochim Biophys Acta. 2015 Feb;1851(2):117-28. doi: 10.1016/j.bbalip.2014.11.005. Epub 2014 Nov 15.

35.

Chondrodysplasia Punctata 1, X-Linked.

Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Apr 22 [updated 2014 Nov 20].

36.

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafé L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N.

Ann Clin Transl Neurol. 2014 Jul;1(7):462-70. doi: 10.1002/acn3.73. Epub 2014 Jun 19.

37.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G.

Neurogenetics. 2014 Aug;15(3):161-4. doi: 10.1007/s10048-014-0412-2. Epub 2014 Jun 21.

PMID:
24952175
38.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

39.

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ.

Mol Genet Metab. 2014 Apr;111(4):522-532. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23.

40.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee.

Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Erratum in: Genet Med. 2014 Apr;16(4):356.

PMID:
24385074
41.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N.

J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5.

PMID:
24305960
42.

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE.

Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. Review.

PMID:
23798008
43.

Case 1: Recurrent acute liver dysfunction in a 19-month-old boy.

Trakadis YJ, D'Agostino DM, Braverman NE, Lévesque S, Morinville V.

Paediatr Child Health. 2012 May;17(5):247-8. No abstract available.

44.

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N.

Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7.

PMID:
23470839
45.

Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

Lévesque S, Lambert M, Karalis A, Melancon S, Russell L, Braverman N.

JIMD Rep. 2012;2:97-102. doi: 10.1007/8904_2011_54. Epub 2011 Sep 6.

46.

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

47.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Moser AB, Steinberg SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 16 [updated 2012 Sep 13].

48.

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE.

BMC Med Genet. 2012 Aug 15;13:72. doi: 10.1186/1471-2350-13-72.

49.

Functions of plasmalogen lipids in health and disease.

Braverman NE, Moser AB.

Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. Review.

50.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.

Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.

PMID:
22095942

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