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Items: 1 to 50 of 80

1.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG.

Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15.

PMID:
30111548
2.

Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism.

Connery K, Tippett M, Delhey LM, Rose S, Slattery JC, Kahler SG, Hahn J, Kruger U, Cunningham MW, Shimasaki C, Frye RE.

Transl Psychiatry. 2018 Aug 10;8(1):148. doi: 10.1038/s41398-018-0214-7.

3.

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.

Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P.

Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22.

PMID:
30084155
4.

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE.

Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. Review.

5.

Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism.

Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE.

Transl Psychiatry. 2018 Feb 2;8(1):42. doi: 10.1038/s41398-017-0089-z.

6.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.

Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.

PMID:
28815955
7.

The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.

Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE.

J Clin Med. 2017 Feb 13;6(2). pii: E18. doi: 10.3390/jcm6020018.

8.

Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor α autoimmune disorder.

Frye RE, Wynne R, Rose S, Slattery J, Delhey L, Tippett M, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros EV.

J Neuroendocrinol. 2017 Mar;29(3). doi: 10.1111/jne.12461.

PMID:
28199771
9.

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA.

Neuropediatrics. 2017 Apr;48(2):108-110. doi: 10.1055/s-0036-1593984. Epub 2016 Nov 22.

PMID:
27875839
10.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

11.

Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines.

Frye RE, Rose S, Chacko J, Wynne R, Bennuri SC, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF.

Transl Psychiatry. 2016 Oct 25;6(10):e927. doi: 10.1038/tp.2016.189.

12.

Enteric Ecosystem Disruption in Autism Spectrum Disorder: Can the Microbiota and Macrobiota be Restored?

Slattery J, MacFabe DF, Kahler SG, Frye RE.

Curr Pharm Des. 2016;22(40):6107-6121. Review.

PMID:
27592717
13.

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.

Niyazov DM, Kahler SG, Frye RE.

Mol Syndromol. 2016 Jul;7(3):122-37. doi: 10.1159/000446586. Epub 2016 Jun 3. Review.

14.

Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups.

Frye RE, Delhey L, Slattery J, Tippett M, Wynne R, Rose S, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros E.

Front Neurosci. 2016 Mar 9;10:80. doi: 10.3389/fnins.2016.00080. eCollection 2016.

15.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH.

Hum Mol Genet. 2015 Sep 1;24(17):4848-61. doi: 10.1093/hmg/ddv208. Epub 2015 Jun 8.

16.

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
17.

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.

Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.

PMID:
22581587
18.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F.

Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.

19.

Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism.

Melnyk S, Fuchs GJ, Schulz E, Lopez M, Kahler SG, Fussell JJ, Bellando J, Pavliv O, Rose S, Seidel L, Gaylor DW, James SJ.

J Autism Dev Disord. 2012 Mar;42(3):367-77. doi: 10.1007/s10803-011-1260-7.

20.

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ.

J Med Genet. 2009 May;46(5):308-14. doi: 10.1136/jmg.2008.063149. Epub 2009 Feb 2.

PMID:
19188198
21.

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC.

Neurology. 2008 Nov 25;71(22):1764-9. doi: 10.1212/01.wnl.0000325060.16532.40. Epub 2008 Oct 8.

PMID:
18843099
22.

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM.

Am J Med Genet A. 2008 Jul 15;146A(14):1832-41. doi: 10.1002/ajmg.a.32370.

PMID:
18553514
23.

Autism and environmental genomics.

Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E.

Neurotoxicology. 2006 Sep;27(5):671-84. Epub 2006 Mar 28. Review.

PMID:
16644012
24.

A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.

Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA.

Am J Med Genet A. 2005 May 15;135(1):36-40. Review.

PMID:
15810001
25.

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA.

J Biol Chem. 2003 Dec 26;278(52):52909-13. Epub 2003 Oct 10.

26.

The epidemiology of childhood cardiomyopathy in Australia.

Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG; National Australian Childhood Cardiomyopathy Study.

N Engl J Med. 2003 Apr 24;348(17):1639-46.

27.

Metabolic disorders and mental retardation.

Kahler SG, Fahey MC.

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):31-41. Review.

PMID:
12561056
28.
29.

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.

Hum Mutat. 2002 Nov;20(5):406.

PMID:
12402345
30.

Hepatic storage of glycogen in Niemann-Pick disease type B.

Smith WE, Kahler SG, Frush DP, Milov DE, Gottfried MR, Chen YT.

J Pediatr. 2001 Jun;138(6):946-8.

PMID:
11391349
31.

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency.

Van Hove JL, Kahler SG, Feezor MD, Ramakrishna JP, Hart P, Treem WR, Shen JJ, Matern D, Millington DS.

J Inherit Metab Dis. 2000 Sep;23(6):571-82.

PMID:
11032332
32.

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.

Ann Neurol. 2000 Jul;48(1):102-4.

PMID:
10894222
33.

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Shen JJ, Matern D, Millington DS, Hillman S, Feezor MD, Bennett MJ, Qumsiyeh M, Kahler SG, Chen YT, Van Hove JL.

J Inherit Metab Dis. 2000 Feb;23(1):27-44.

PMID:
10682306
34.

Acute hydrocephalus in nonketotic hyperglycinemia.

Van Hove JL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL.

Neurology. 2000 Feb 8;54(3):754-6.

PMID:
10680820
35.

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL.

Am J Med Genet. 1999 Dec 3;87(4):331-8.

PMID:
10588840
36.

Galactosaemia in Chinese.

Kahler SG.

J Paediatr Child Health. 1999 Aug;35(4):339-440. No abstract available.

PMID:
10457287
37.

One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.

Van Hove JL, Lazeyras F, Zeisel SH, Bottiglieri T, Hyland K, Charles HC, Gray L, Jaeken J, Kahler SG.

J Inherit Metab Dis. 1998 Dec;21(8):799-811.

PMID:
9870205
38.

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Kishnani PS, Van Hove JL, Shoffner JS, Kaufman A, Bossen EH, Kahler SG.

Eur J Pediatr. 1996 Oct;155(10):898-903.

PMID:
8891562
39.

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M.

J Med Genet. 1996 Sep;33(9):760-3.

40.
41.

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA.

Hum Mol Genet. 1996 Jul;5(7):1043-6.

PMID:
8817344
42.

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.

Chace DH, Hillman SL, Millington DS, Kahler SG, Adam BW, Levy HL.

Clin Chem. 1996 Mar;42(3):349-55.

43.

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG.

Am J Med Genet. 1995 Dec 4;59(4):444-53.

PMID:
8585564
44.

Fryns syndrome survivors and neurologic outcome.

Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG.

Am J Med Genet. 1995 Nov 20;59(3):334-40. Review.

PMID:
8599357
45.

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG.

Am J Med Genet. 1995 Oct 23;59(1):44-8.

PMID:
8849010
46.

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia.

Speer MC, Kingston HM, Boustany RM, Gaskell PC, Robinson LC, Lennon F, Wolpert CM, Yamaoka LH, Kahler SG, Hogan EL, et al.

Am J Med Genet. 1995 Aug 14;60(4):307-11.

PMID:
7485266
47.

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.

Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG.

Pediatr Pathol Lab Med. 1995 May-Jun;15(3):443-53. Review.

PMID:
8597831
48.

epsilon-Aminocaproic acid-associated myopathy in a child.

Winter SS, Chaffee S, Kahler SG, Graham ML.

J Pediatr Hematol Oncol. 1995 Feb;17(1):53-5.

PMID:
7743238
49.

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS.

J Inherit Metab Dis. 1995;18(5):592-601.

PMID:
8598640
50.

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.

Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW.

Clin Chem. 1995 Jan;41(1):62-8.

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