| Year |
Citation |
Score |
| 2020 |
Otsuka H, Kimura T, Ago Y, Nakama M, Aoyama Y, Abdelkreem E, Matsumoto H, Ohnishi H, Sasai H, Osawa M, Yamaguchi S, Mitchell GA, Fukao T. Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting. Journal of Inherited Metabolic Disease. PMID 32279332 DOI: 10.1002/Jimd.12243 |
0.334 |
|
| 2020 |
Xia B, Shi XC, Xie BC, Zhu MQ, Chen Y, Chu XY, Cai GH, Liu M, Yang SZ, Mitchell GA, Pang WJ, Wu JW. Urolithin A exerts antiobesity effects through enhancing adipose tissue thermogenesis in mice. Plos Biology. 18: e3000688. PMID 32218572 DOI: 10.1371/Journal.Pbio.3000688 |
0.313 |
|
| 2020 |
Nardi N, Proulx F, Brunel-Guiton C, Oligny LL, Piché N, Mitchell GA, Joyal JS. Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. Journal of Pediatric Intensive Care. 9: 54-59. PMID 31984159 DOI: 10.1055/S-0039-1697620 |
0.303 |
|
| 2019 |
Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. European Journal of Human Genetics : Ejhg. PMID 31695177 DOI: 10.1038/S41431-019-0539-6 |
0.311 |
|
| 2019 |
Yang H, Zhao C, Tang MC, Wang Y, Wang SP, Allard P, Furtos A, Mitchell GA. Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic. Molecular Genetics and Metabolism. PMID 31186158 DOI: 10.1016/J.Ymgme.2019.05.002 |
0.363 |
|
| 2019 |
Zhang X, Zhang CC, Yang H, Soni KG, Wang SP, Mitchell GA, Wu JW. An Epistatic Interaction between and Reveals New Pathways of Adipose Tissue Lipolysis. Cells. 8. PMID 31035700 DOI: 10.3390/Cells8050395 |
0.337 |
|
| 2019 |
Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. 42: 107-116. PMID 30740739 DOI: 10.1002/Jimd.12032 |
0.313 |
|
| 2019 |
Yang H, Zhao C, Wang Y, Wang SP, Mitchell GA. Hereditary diseases of coenzyme A thioester metabolism. Biochemical Society Transactions. PMID 30626707 DOI: 10.1042/Bst20180423 |
0.319 |
|
| 2017 |
Xia B, Cai GH, Yang H, Wang SP, Mitchell GA, Wu JW. Adipose Tissue Deficiency of Hormone-Sensitive Lipase Causes Fatty Liver in Mice. Plos Genetics. 13: e1007110. PMID 29232702 DOI: 10.1371/Journal.Pgen.1007110 |
0.337 |
|
| 2017 |
Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, ... ... Mitchell GA, et al. The Québec NTBC Study. Advances in Experimental Medicine and Biology. 959: 187-195. PMID 28755196 DOI: 10.1007/978-3-319-55780-9_17 |
0.31 |
|
| 2017 |
Halac U, Dubois J, Mitchell GA. The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. Advances in Experimental Medicine and Biology. 959: 75-83. PMID 28755185 DOI: 10.1007/978-3-319-55780-9_6 |
0.306 |
|
| 2017 |
Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, ... ... Mitchell GA, et al. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Molecular Genetics and Metabolism. PMID 28583327 DOI: 10.1016/J.Ymgme.2017.05.014 |
0.367 |
|
| 2017 |
Wu JW, Preuss C, Wang SP, Yang H, Ji B, Carter GW, Gladdy R, Andelfinger G, Mitchell GA. Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice. Plos Genetics. 13: e1006716. PMID 28459858 DOI: 10.1371/Journal.Pgen.1006716 |
0.334 |
|
| 2017 |
Martins C, Brunel-Guitton C, Lortie A, Gauvin F, Morales CR, Mitchell GA, Pshezhetsky AV. Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene. Molecular Genetics and Metabolism Reports. 11: 24-29. PMID 28417072 DOI: 10.1016/J.Ymgmr.2017.01.017 |
0.352 |
|
| 2017 |
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, et al. TYROSINEMIA TYPE II: Mutation update, eleven novel mutations and description of five independent subjects with a novel founder mutation. Clinical Genetics. PMID 28255985 DOI: 10.1111/Cge.13003 |
0.349 |
|
| 2016 |
Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. Journal of Medical Genetics. PMID 27876694 DOI: 10.1136/Jmedgenet-2016-104289 |
0.326 |
|
| 2016 |
Yang H, Wu JW, Wang SP, Severi I, Sartini L, Frizzell N, Cinti S, Yang G, Mitchell GA. Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis and Insulin Resistance. Diabetes. PMID 27554470 DOI: 10.2337/Db16-0136 |
0.326 |
|
| 2016 |
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, ... ... Mitchell GA, et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). Journal of Medical Genetics. PMID 26908836 DOI: 10.1136/Jmedgenet-2015-103322 |
0.327 |
|
| 2016 |
Sasarman F, Maftei C, Campeau PM, Brunel-Guitton C, Mitchell GA, Allard P. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. Journal of Inherited Metabolic Disease. 39: 173-88. PMID 26689402 DOI: 10.1007/S10545-015-9903-Z |
0.322 |
|
| 2015 |
Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Molecular Genetics and Metabolism Reports. 5: 85-88. PMID 28649549 DOI: 10.1016/J.Ymgmr.2015.10.010 |
0.361 |
|
| 2015 |
Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. The Canadian Journal of Cardiology. PMID 26148450 DOI: 10.1016/J.Cjca.2015.04.004 |
0.325 |
|
| 2015 |
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ, Michaud JL, Majewski J. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human Genetics. 134: 981-91. PMID 26099313 DOI: 10.1007/S00439-015-1577-Y |
0.377 |
|
| 2015 |
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Human Molecular Genetics. 24: 2841-7. PMID 25652405 DOI: 10.1093/Hmg/Ddv044 |
0.336 |
|
| 2015 |
Wu JW, Yang H, Wang SP, Soni KG, Brunel-Guitton C, Mitchell GA. Inborn errors of cytoplasmic triglyceride metabolism. Journal of Inherited Metabolic Disease. 38: 85-98. PMID 25300978 DOI: 10.1007/S10545-014-9767-7 |
0.355 |
|
| 2014 |
Wang SP, Yang H, Wu JW, Gauthier N, Fukao T, Mitchell GA. Metabolism as a tool for understanding human brain evolution: lipid energy metabolism as an example. Journal of Human Evolution. 77: 41-9. PMID 25488255 DOI: 10.1016/J.Jhevol.2014.06.013 |
0.539 |
|
| 2014 |
Wang SP, Wu JW, Bourdages H, Lefebvre JF, Casavant S, Leavitt BR, Labuda D, Trasler J, Smith CE, Hermo L, Mitchell GA. The catalytic function of hormone-sensitive lipase is essential for fertility in male mice. Endocrinology. 155: 3047-53. PMID 24797631 DOI: 10.1210/En.2014-1031 |
0.323 |
|
| 2014 |
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Ketone body metabolism and its defects. Journal of Inherited Metabolic Disease. 37: 541-51. PMID 24706027 DOI: 10.1007/S10545-014-9704-9 |
0.374 |
|
| 2014 |
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, ... ... Mitchell G, et al. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Molecular Genetics and Metabolism. 111: 16-25. PMID 24268530 DOI: 10.1016/J.Ymgme.2013.10.018 |
0.308 |
|
| 2013 |
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, ... ... Mitchell GA, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 80: 429-41. PMID 24139043 DOI: 10.1016/J.Neuron.2013.08.013 |
0.347 |
|
| 2013 |
Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Molecular Genetics and Metabolism. 110: 129-38. PMID 23876334 DOI: 10.1016/J.Ymgme.2013.06.008 |
0.356 |
|
| 2013 |
Gauthier N, Wu JW, Wang SP, Allard P, Mamer OA, Sweetman L, Moser AB, Kratz L, Alvarez F, Robitaille Y, Lépine F, Mitchell GA. A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. Plos One. 8: e60581. PMID 23861731 DOI: 10.1371/Journal.Pone.0060581 |
0.584 |
|
| 2013 |
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, et al. Diversity of ARSACS mutations in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 40: 61-6. PMID 23250129 DOI: 10.1017/S0317167100012968 |
0.314 |
|
| 2012 |
Lian J, Wei E, Wang SP, Quiroga AD, Li L, Di Pardo A, van der Veen J, Sipione S, Mitchell GA, Lehner R. Liver specific inactivation of carboxylesterase 3/triacylglycerol hydrolase decreases blood lipids without causing severe steatosis in mice. Hepatology (Baltimore, Md.). 56: 2154-62. PMID 22707181 DOI: 10.1002/Hep.25881 |
0.331 |
|
| 2012 |
Wu JW, Wang SP, Casavant S, Moreau A, Yang GS, Mitchell GA. Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase. Endocrinology. 153: 2198-207. PMID 22374972 DOI: 10.1210/En.2011-1518 |
0.336 |
|
| 2011 |
Wu JW, Wang SP, Alvarez F, Casavant S, Gauthier N, Abed L, Soni KG, Yang G, Mitchell GA. Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis. Hepatology (Baltimore, Md.). 54: 122-32. PMID 21465509 DOI: 10.1002/Hep.24338 |
0.568 |
|
| 2011 |
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, ... ... Mitchell G, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American Journal of Human Genetics. 88: 306-16. PMID 21376300 DOI: 10.1016/J.Ajhg.2011.03.011 |
0.321 |
|
| 2011 |
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, ... ... Mitchell GA, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation. 32: 610-9. PMID 21344540 DOI: 10.1002/Humu.21480 |
0.341 |
|
| 2011 |
Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Journal of Medical Genetics. 48: 183-9. PMID 21266382 DOI: 10.1136/Jmg.2010.081976 |
0.351 |
|
| 2010 |
Debray FG, Lambert M, Allard P, Mitchell GA. Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. Journal of Child Neurology. 25: 1000-2. PMID 20472868 DOI: 10.1177/0883073809351983 |
0.348 |
|
| 2010 |
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of Medical Genetics. 47: 453-63. PMID 20472660 DOI: 10.1136/Jmg.2009.073205 |
0.333 |
|
| 2010 |
Wei E, Ben Ali Y, Lyon J, Wang H, Nelson R, Dolinsky VW, Dyck JR, Mitchell G, Korbutt GS, Lehner R. Loss of TGH/Ces3 in mice decreases blood lipids, improves glucose tolerance, and increases energy expenditure. Cell Metabolism. 11: 183-93. PMID 20197051 DOI: 10.1016/J.Cmet.2010.02.005 |
0.314 |
|
| 2008 |
Orii KE, Fukao T, Song XQ, Mitchell GA, Kondo N. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. The Tohoku Journal of Experimental Medicine. 215: 227-36. PMID 18648183 DOI: 10.1620/Tjem.215.227 |
0.331 |
|
| 2008 |
Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell G, Stockler S, Melancon S, Rupar T, et al. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Molecular Genetics and Metabolism. 94: 456-61. PMID 18511319 DOI: 10.1016/J.Ymgme.2008.05.001 |
0.313 |
|
| 2008 |
Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics. 39: 20-3. PMID 18504677 DOI: 10.1055/S-2008-1077084 |
0.368 |
|
| 2008 |
Mitchell GA, Gauthier N, Lesimple A, Wang SP, Mamer O, Qureshi I. Hereditary and acquired diseases of acyl-coenzyme A metabolism. Molecular Genetics and Metabolism. 94: 4-15. PMID 18337138 DOI: 10.1016/J.Ymgme.2007.12.005 |
0.569 |
|
| 2008 |
Hermo L, Chung S, Gregory M, Smith CE, Wang SP, El-Alfy M, Cyr DG, Mitchell GA, Trasler J. Alterations in the testis of hormone sensitive lipase-deficient mice is associated with decreased sperm counts, sperm motility, and fertility. Molecular Reproduction and Development. 75: 565-77. PMID 17886267 DOI: 10.1002/Mrd.20800 |
0.311 |
|
| 2007 |
Richter A, Mitchell GA, Rasquin A. [North American Indian childhood cirrhosis (NAIC)]. MéDecine Sciences : M/S. 23: 1002-7. PMID 18021715 DOI: 10.1051/Medsci/200723111002 |
0.337 |
|
| 2007 |
Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. American Journal of Medical Genetics. Part A. 143: 2046-51. PMID 17663470 DOI: 10.1002/Ajmg.A.31880 |
0.351 |
|
| 2007 |
Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. Molecular Genetics and Metabolism. 90: 370-8. PMID 17236799 DOI: 10.1016/J.Ymgme.2006.12.002 |
0.314 |
|
| 2006 |
Debray FG, Lambert M, Vanasse M, Decarie JC, Cameron J, Levandovskiy V, Robinson BH, Mitchell GA. Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. European Journal of Pediatrics. 165: 462-6. PMID 16552546 DOI: 10.1007/S00431-006-0104-5 |
0.346 |
|
| 2005 |
Fortier M, Soni K, Laurin N, Wang SP, Mauriège P, Jirik FR, Mitchell GA. Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice. Journal of Lipid Research. 46: 1860-7. PMID 15961788 DOI: 10.1194/Jlr.M500081-Jlr200 |
0.328 |
|
| 2005 |
Park SY, Kim HJ, Wang S, Higashimori T, Dong J, Kim YJ, Cline G, Li H, Prentki M, Shulman GI, Mitchell GA, Kim JK. Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heart American Journal of Physiology - Endocrinology and Metabolism. 289: E30-E39. PMID 15701680 DOI: 10.1152/Ajpendo.00251.2004 |
0.308 |
|
| 2004 |
Wang SP, Chung S, Soni K, Bourdages H, Hermo L, Trasler J, Mitchell GA. Expression of human hormone-sensitive lipase (HSL) in postmeiotic germ cells confers normal fertility to HSL-deficient mice. Endocrinology. 145: 5688-93. PMID 15345679 DOI: 10.1210/En.2004-0919 |
0.307 |
|
| 2004 |
Soni KG, Lehner R, Metalnikov P, O'Donnell P, Semache M, Gao W, Ashman K, Pshezhetsky AV, Mitchell GA. Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase. The Journal of Biological Chemistry. 279: 40683-9. PMID 15220344 DOI: 10.1074/Jbc.M400541200 |
0.307 |
|
| 2004 |
Peyot ML, Nolan CJ, Soni K, Joly E, Lussier R, Corkey BE, Wang SP, Mitchell GA, Prentki M. Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like peptide 1. Diabetes. 53: 1733-42. PMID 15220197 DOI: 10.2337/Diabetes.53.7.1733 |
0.319 |
|
| 2004 |
Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH. The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. The Biochemical Journal. 382: 331-6. PMID 15139850 DOI: 10.1042/Bj20040469 |
0.361 |
|
| 2004 |
Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (London, England). 363: 852-9. PMID 15031030 DOI: 10.1016/S0140-6736(04)15732-2 |
0.326 |
|
| 2004 |
Simard LR, Viel J, Lambert M, Paradis G, Levy E, Delvin EE, Mitchell GA. The Δ > 15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: Rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec Clinical Genetics. 65: 202-208. PMID 14756670 DOI: 10.1111/J.0009-9163.2004.00223.X |
0.306 |
|
| 2003 |
Laberge AM, Mitchell GA, van de Werve G, Lambert M. Long-term follow-up of a new case of liver glycogen synthase deficiency. American Journal of Medical Genetics. Part A. 120: 19-22. PMID 12794686 DOI: 10.1002/Ajmg.A.20110 |
0.351 |
|
| 2003 |
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proceedings of the National Academy of Sciences of the United States of America. 100: 605-10. PMID 12529507 DOI: 10.1073/Pnas.242716699 |
0.305 |
|
| 2002 |
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. American Journal of Human Genetics. 71: 1443-9. PMID 12417987 DOI: 10.1086/344580 |
0.356 |
|
| 2002 |
Vuillaumier-Barrot S, Bizec CL, Lonlay Pd, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N. Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib Journal of Medical Genetics. 39: 849-851. PMID 12414827 DOI: 10.1136/Jmg.39.11.849 |
0.356 |
|
| 2002 |
Li H, Brochu M, Wang SP, Rochdi L, Côté M, Mitchell G, Gallo-Payet N. Hormone-sensitive lipase deficiency in mice causes lipid storage in the adrenal cortex and impaired corticosterone response to corticotropin stimulation. Endocrinology. 143: 3333-40. PMID 12193545 DOI: 10.1210/En.2002-220341 |
0.333 |
|
| 2002 |
Lahjouji K, Elimrani I, Wu J, Mitchell GA, Qureshi IA. A heterozygote phenotype is present in the jvs +/- mutant mouse livers. Molecular Genetics and Metabolism. 76: 76-80. PMID 12175785 DOI: 10.1016/S1096-7192(02)00017-3 |
0.357 |
|
| 2002 |
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. American Journal of Human Genetics. 70: 1520-31. PMID 11992258 DOI: 10.1086/340849 |
0.373 |
|
| 2001 |
Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency Journal of Inherited Metabolic Disease. 24: 587-595. PMID 11757586 DOI: 10.1023/A:1012419911789 |
0.348 |
|
| 2001 |
Chung S, Wang SP, Pan L, Mitchell G, Trasler J, Hermo L. Infertility and testicular defects in hormone-sensitive lipase-deficient mice. Endocrinology. 142: 4272-81. PMID 11564684 DOI: 10.1210/Endo.142.10.8424 |
0.327 |
|
| 2001 |
Lahjouji K, Mitchell GA, Qureshi IA. Carnitine transport by organic cation transporters and systemic carnitine deficiency Molecular Genetics and Metabolism. 73: 287-297. PMID 11509010 DOI: 10.1006/Mgme.2001.3207 |
0.311 |
|
| 2001 |
Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: A review Pediatric and Developmental Pathology. 4: 212-221. PMID 11370259 DOI: 10.1007/S100240010146 |
0.335 |
|
| 2001 |
Bouchard L, Robert MF, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard JV, Quant P, Hsu BY, Boneh A, Boukaftane Y, Ashmarina L, Wang S, Miziorko H, Mitchell GA. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. Pediatric Research. 49: 326-31. PMID 11228257 DOI: 10.1203/00006450-200103000-00005 |
0.394 |
|
| 2001 |
Lee N, Daly MJ, Delmonte T, Lander ES, Xu F, Hudson TJ, Mitchell GA, Morin CC, Robinson BH, Rioux JD. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. American Journal of Human Genetics. 68: 397-409. PMID 11156535 DOI: 10.1086/318197 |
0.346 |
|
| 2000 |
Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A. North American Indian Cirrhosis in Children: A Review of 30 Cases Journal of Pediatric Gastroenterology and Nutrition. 31: 395-404. PMID 11045837 DOI: 10.1097/00005176-200010000-00013 |
0.346 |
|
| 2000 |
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJA, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations Genomics. 68: 144-151. PMID 10964512 DOI: 10.1006/Geno.2000.6282 |
0.339 |
|
| 2000 |
Laberge AM, Mitchell G, Werve GVd, Lambert M. A new caw of hepatic glycogen snthase deficiency. biochemical findings and comparison with reported cases Genetics in Medicine. 2: 80-80. DOI: 10.1097/00125817-200001000-00105 |
0.36 |
|
| 1999 |
Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nature Genetics. 22: 151-8. PMID 10369256 DOI: 10.1038/9658 |
0.312 |
|
| 1998 |
Wang SP, Marth JD, Oligny LL, Vachon M, Robert MF, Ashmarina L, Mitchell GA. 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): Gene targeting causes prenatal lethality in HL-deficient mice Human Molecular Genetics. 7: 2057-2062. PMID 9817922 DOI: 10.1093/Hmg/7.13.2057 |
0.364 |
|
| 1998 |
Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings Human Mutation. 12: 83-88. PMID 9671268 DOI: 10.1002/(Sici)1098-1004(1998)12:2<83::Aid-Humu2>3.0.Co;2-P |
0.345 |
|
| 1998 |
Richard C, Tranchemontagne J, Elsliger MA, Mitchell GA, Potier M, Pshezhetsky AV. Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene Human Mutation. 11: 461-469. PMID 9603439 DOI: 10.1002/(Sici)1098-1004(1998)11:6<461::Aid-Humu7>3.0.Co;2-F |
0.354 |
|
| 1998 |
Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H. HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q American Journal of Human Genetics. 62: 295-300. PMID 9463337 DOI: 10.1086/301730 |
0.328 |
|
| 1997 |
Sztrolovics R, Wang SP, Lapierre P, Chen HS, Robert MF, Mitchell GA. Hormone-sensitive lipase (Lipe): sequence analysis of the 129Sv mouse Lipe gene. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 8: 86-9. PMID 9060404 DOI: 10.1007/S003359900363 |
0.304 |
|
| 1996 |
Roberts JR, Mitchell GA, Miziorko HM. Modeling of a mutation responsible for human 3-hydroxy-3- methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue Journal of Biological Chemistry. 271: 24604-24609. PMID 8798725 DOI: 10.1074/Jbc.271.40.24604 |
0.307 |
|
| 1996 |
Wang SP, Robert MF, Gibson KM, Wanders RJA, Mitchell GA. 3-Hydroxy-3-methylglutaryl CoA lyase (HL): Mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients Genomics. 33: 99-104. PMID 8617516 DOI: 10.1006/Geno.1996.0164 |
0.309 |
|
| 1995 |
Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl‐coenzyme A thiolase deficiency in two further patients Human Mutation. 5: 34-42. PMID 7728148 DOI: 10.1002/Humu.1380050105 |
0.32 |
|
| 1994 |
Boukaftane Y, Duncan A, Wang S, Labuda D, Robert MF, Sarrazin J, Schappert K, Mitchell GA. Human Mitochondrial HMG CoA Synthase: Liver cDNA and Partial Genomic Cloning, Chromosome Mapping to 1p12-p13, and Possible Role in Vertebrate Evolution Genomics. 23: 552-559. PMID 7851882 DOI: 10.1006/Geno.1994.1542 |
0.309 |
|
| 1992 |
Lemay JF, Lambert MA, Mitchell GA, Vanasse M, Valle D, Arbour JF, Dubé J, Flessas J, Laberge M, Lafleur L, Orquin J, Qureshi IA, Dery R. Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: Neurologic, ophthalmologic, and neuropsychologic examination of six patients The Journal of Pediatrics. 121: 725-730. PMID 1432421 DOI: 10.1016/S0022-3476(05)81900-6 |
0.303 |
|
| 1992 |
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. The Journal of Clinical Investigation. 90: 1185-92. PMID 1401056 DOI: 10.1172/Jci115979 |
0.351 |
|
| 1988 |
Bonnefont JP, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, Donato SD, Saudubray JM. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatric Research. 24: 308-311. PMID 3211616 DOI: 10.1203/00006450-198809000-00006 |
0.365 |
|
| 1986 |
Mitchell GA, Watkins D, Melançon SB, Rosenblatt DS, Geoffroy G, Orquin J, Homsy MB, Dallaire L. Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. The Journal of Pediatrics. 108: 410-5. PMID 3950820 DOI: 10.1016/S0022-3476(86)80882-4 |
0.318 |
|
| 1985 |
Duran M, Mitchell G, Klerk JBCd, Jager JPd, Hofkamp M, Bruinvis L, Ketting D, Saudubray J, Wadman SK. Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids The Journal of Pediatrics. 107: 397-404. PMID 4032135 DOI: 10.1016/S0022-3476(85)80514-X |
0.319 |
|
| 1983 |
Gaudry M, Munnich A, Ogier H, Marsac C, Marquet A, Saudubray JM, Mitchell G, Causse M, Frezal J. Deficient Liver Biotinidase Activity In Multiple Carboxylase Deficiency The Lancet. 322: 397. PMID 6135889 DOI: 10.1016/S0140-6736(83)90363-X |
0.304 |
|
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