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Items: 1 to 50 of 192

1.

Piloting a structured developmental tool to assess transition readiness for youth with special health-care needs: A mixed-methods exploration of health-care provider experiences.

Bond J, Shanske S, Hoffman R, Ross AM.

J Child Health Care. 2019 Feb 17:1367493518823899. doi: 10.1177/1367493518823899. [Epub ahead of print]

PMID:
30773898
2.

Care coordination in pediatric health care settings: the critical role of social work.

Ross A, Arnold J, Gormley A, Locke S, Shanske S, Tardiff C.

Soc Work Health Care. 2019 Jan;58(1):1-13. doi: 10.1080/00981389.2018.1514352. Epub 2018 Sep 17.

PMID:
30222070
3.

Social workers as care coordinators: Leaders in ensuring effective, compassionate care.

Monterio C, Arnold J, Locke S, Steinhorn L, Shanske S.

Soc Work Health Care. 2016;55(3):195-213. doi: 10.1080/00981389.2015.1093579. Epub 2016 Feb 22.

PMID:
26901660
4.

Pediatric Orthopaedic Providers' Views on Transition From Pediatric to Adult Care.

Fishman LN, DiFazio R, Miller P, Shanske S, Waters PM.

J Pediatr Orthop. 2016 Sep;36(6):e75-80. doi: 10.1097/BPO.0000000000000629.

PMID:
26296228
5.

Opportunities lost and found: experiences of patients with cerebral palsy and their parents transitioning from pediatric to adult healthcare.

DiFazio RL, Harris M, Vessey JA, Glader L, Shanske S.

J Pediatr Rehabil Med. 2014;7(1):17-31. doi: 10.3233/PRM-140276.

PMID:
24919935
6.

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, DiMauro S.

J Child Neurol. 2013 Feb;28(2):264-8. doi: 10.1177/0883073812441067. Epub 2012 Apr 24.

7.

Social workers as transition brokers: facilitating the transition from pediatric to adult medical care.

Shanske S, Arnold J, Carvalho M, Rein J.

Soc Work Health Care. 2012;51(4):279-95. doi: 10.1080/00981389.2011.638419.

PMID:
22489554
8.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC.

Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.

9.

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR.

Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/00006450-201011001-00310.

10.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S.

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

11.

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S.

Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31.

12.

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JT, Toi A, Tarnopolsky M, Robinson B, Blaser S.

Fetal Diagn Ther. 2009;25(2):177-82. doi: 10.1159/000209385. Epub 2009 Mar 25.

13.

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S.

Am J Med Genet A. 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703.

14.

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP.

FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16.

15.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M.

Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108.

PMID:
18695062
16.

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S.

Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27.

17.

A functionally dominant mitochondrial DNA mutation.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM.

Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12.

18.

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S.

Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67.

PMID:
18332249
19.

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP.

J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7.

20.

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S.

Eur J Pediatr. 2008 Jul;167(7):771-6. Epub 2007 Sep 22.

PMID:
17891417
21.

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.

J Child Neurol. 2007 Jul;22(7):858-62.

PMID:
17715279
22.

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.

Pediatr Res. 2007 Oct;62(4):499-504.

PMID:
17667862
23.

Mitochondrial myopathy associated with a novel mutation in mtDNA.

Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S.

Neuromuscul Disord. 2007 Aug;17(8):651-4. Epub 2007 Jun 27.

24.

Detection of mutations in mtDNA.

Naini A, Shanske S.

Methods Cell Biol. 2007;80:437-63. Review. No abstract available.

PMID:
17445708
25.

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE.

Am J Med Genet A. 2007 Apr 15;143A(8):830-8.

PMID:
17357124
26.

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S.

Arch Neurol. 2006 Aug;63(8):1122-6. Review.

PMID:
16908738
27.

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

Slonim AE, Bulone L, Minikes J, Hays AP, Shanske S, Tsujino S, DiMauro S.

Muscle Nerve. 2006 Apr;33(4):571-4.

PMID:
16320310
28.

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S.

J Child Neurol. 2005 Aug;20(8):670-4.

PMID:
16225813
29.

Molecular analysis for mitochondrial DNA disorders.

Shanske S, Wong LJ.

Mitochondrion. 2004 Sep;4(5-6):403-15.

PMID:
16120402
30.

Achalasia as the harbinger of a novel mitochondrial disorder in childhood.

Chelimsky G, Shanske S, Hirano M, Zinn AB, Cohen M, McNeeley K, Chelimsky TC.

J Pediatr Gastroenterol Nutr. 2005 Apr;40(4):512-7. No abstract available.

PMID:
15795604
31.

Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.

Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S.

J Child Neurol. 2005 Feb;20(2):142-6.

PMID:
15794182
32.

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA.

J Neurol Sci. 2005 Mar 15;229-230:187-93. Epub 2004 Dec 15.

PMID:
15760638
33.

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S.

Arch Neurol. 2004 Dec;61(12):1935-7.

PMID:
15596615
34.

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.

Venditti CP, Harris MC, Huff D, Peterside I, Munson D, Weber HS, Rome J, Kaye EM, Shanske S, Sacconi S, Tay S, DiMauro S, Berry GT.

J Inherit Metab Dis. 2004;27(6):735-9.

PMID:
15505378
35.

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC.

Am J Med Genet A. 2004 Oct 1;130A(2):134-7.

PMID:
15372523
36.

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM.

Lancet. 2004 Aug 14-20;364(9434):592-6.

PMID:
15313359
37.

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Majamaa K, Wilichowski E, Thorburn DR.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1204-5. No abstract available.

38.

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

Tay SK, Shanske S, Kaplan P, DiMauro S.

Arch Neurol. 2004 Jun;61(6):950-2.

PMID:
15210538
39.

Study of mitochondrial DNA mutations in patients with migraine with prolonged aura.

Rozen TD, Shanske S, Otaegui D, Lu J, Young WB, Bradley K, DiMauro S, Silberstein SD.

Headache. 2004 Jul-Aug;44(7):674-7.

PMID:
15209689
40.

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S.

J Child Neurol. 2004 Apr;19(4):258-61.

PMID:
15163090
41.

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, Mao X, Shanske S, Hirano M, DiMauro S, De Vivo DC.

Neurology. 2004 Apr 27;62(8):1297-302.

PMID:
15111665
42.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S.

Neuromuscul Disord. 2004 Apr;14(4):253-60.

PMID:
15019703
43.

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.

Arch Neurol. 2003 Oct;60(10):1445-7. Erratum in: Arch Neurol. 2004 Jan;61(1):29.

PMID:
14568816
44.

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S.

Ann Neurol. 2003 Oct;54(4):524-6.

PMID:
14520667
45.

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.

Arch Neurol. 2003 Sep;60(9):1279-84.

PMID:
12975295
46.

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.

Arch Neurol. 2003 Jul;60(7):1007-9.

PMID:
12873860
47.

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.

Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S.

J Neurol Sci. 2003 May 15;209(1-2):61-3.

PMID:
12686403
48.

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S.

Pediatr Res. 2003 Feb;53(2):224-30.

PMID:
12538779
49.

A 14-year-old male with asymptomatic proteinuria and hearing loss.

Nasr SH, Corey H, Shanske S, Pancrudo J, Kaufmann P, Markowitz GS, DiMauro S, D'Agati VD.

Am J Kidney Dis. 2003 Jan;41(1):259-64. No abstract available.

PMID:
12500247
50.

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S.

Neuromuscul Disord. 2002 Nov;12(9):865-8.

PMID:
12398839

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