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Page 1
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.
Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, Laflamme J, Larbrisseau A, Legault G, Lim KY, Maftei C, Major P, Malvey-Dorn E, Marois P, Mitchell J, Nadeau A, Osterman B, Paradis I, Pohl D, Reggin J, Riou E, Roedde G, Rossignol E, Sébire G, Shevell M, Srour M, Sylvain M, Tarnopolsky M, Venkateswaran S, Sullivan M, Bernard G. Dermer E, et al. Among authors: braverman n. J Child Neurol. 2020 Nov;35(13):901-907. doi: 10.1177/0883073820938645. Epub 2020 Jul 28. J Child Neurol. 2020. PMID: 32720856
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. Mirchi A, et al. Among authors: braverman n. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9. Pediatr Neurol. 2018. PMID: 29859719 Free article.
Clinical utility of methionine restriction in adenosine kinase deficiency.
Almuhsen N, Guay SP, Lefrancois M, Gauvin C, Al Bahlani AQ, Ahmed N, Saint-Martin C, Gagnon T, Waters P, Braverman N, Buhas D. Almuhsen N, et al. Among authors: braverman n. JIMD Rep. 2021 Jul 27;61(1):52-59. doi: 10.1002/jmd2.12238. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485018 Free PMC article.
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
Amir Yazdani P, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chenier S, Soucy JF, Laberge AM, Braverman N, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. Amir Yazdani P, et al. Among authors: braverman n. J Child Neurol. 2022 Mar;37(4):237-245. doi: 10.1177/08830738211065317. Epub 2022 Jan 5. J Child Neurol. 2022. PMID: 34986037 Free PMC article.
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. Helman G, et al. Among authors: braverman n. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
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. Vockley J, et al. Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24385074 Free article.
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A. Unger S, et al. Among authors: braverman n. Eur J Pediatr. 2005 Apr;164(4):236-43. doi: 10.1007/s00431-004-1591-x. Epub 2004 Dec 3. Eur J Pediatr. 2005. PMID: 15580357
135 results