Raiman J - Search Results

1

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. Roscher A, et al. Among authors: raiman j. Mol Genet Metab. 2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21. Mol Genet Metab. 2014. PMID: 25266922

2

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Cameron JM, et al. Among authors: raiman j. Am J Med Genet A. 2006 Jul 15;140(14):1542-52. doi: 10.1002/ajmg.a.31313. Am J Med Genet A. 2006. PMID: 16770810

3

Glycogen storage disease type IX: High variability in clinical phenotype.

Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Beauchamp NJ, et al. Among authors: raiman j. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3. Mol Genet Metab. 2007. PMID: 17689125

4

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Cameron JM, et al. Among authors: raiman j. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. Hum Genet. 2009. PMID: 19184109

5

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.

Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH. Cameron JM, et al. Among authors: raiman j. Mol Genet Metab. 2009 Dec;98(4):378-82. doi: 10.1016/j.ymgme.2009.07.012. Epub 2009 Jul 26. Mol Genet Metab. 2009. PMID: 19699667

6

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Among authors: raiman j. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610

7

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB. Clarke JT, et al. Among authors: raiman ja. Mol Genet Metab. 2011 Jan;102(1):6-12. doi: 10.1016/j.ymgme.2010.09.004. Epub 2010 Sep 17. Mol Genet Metab. 2011. PMID: 20926324 Free PMC article. Clinical Trial.

8

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: raiman j. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

9

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. Yund B, et al. Among authors: raiman j. Mol Genet Metab. 2015 Feb;114(2):170-7. doi: 10.1016/j.ymgme.2014.12.299. Epub 2014 Dec 9. Mol Genet Metab. 2015. PMID: 25541100 Free PMC article. Clinical Trial.

10

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Mercimek-Mahmutoglu S, et al. Among authors: raiman j. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. Orphanet J Rare Dis. 2015. PMID: 25758715 Free PMC article.

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