PubMed

Somatic mitochondrial DNA mutations in single neurons and glia.

Cantuti-Castelvetri I, Lin MT, Zheng K, Keller-McGandy CE, Betensky RA, Johns DR, Beal MF, Standaert DG, Simon DK.

Neurobiol Aging. 2005 Nov-Dec;26(10):1343-55. Epub 2004 Dec 29.PMID: 16243605 [PubMed - indexed for MEDLINE]Related articles

Treatment of Leber's hereditary optic neuropathy: theory to practice.

Johns DR, Colby KA.

Semin Ophthalmol. 2002 Mar;17(1):33-8. Review.PMID: 15513454 [PubMed - indexed for MEDLINE]Related articles

Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation.

Tarnopolsky MA, Simon DK, Roy BD, Chorneyko K, Lowther SA, Johns DR, Sandhu JK, Li Y, Sikorska M.

Muscle Nerve. 2004 Apr;29(4):537-47.PMID: 15052619 [PubMed - indexed for MEDLINE]Related articles

Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson's disease.

Simon DK, Lin MT, Zheng L, Liu GJ, Ahn CH, Kim LM, Mauck WM, Twu F, Beal MF, Johns DR.

Neurobiol Aging. 2004 Jan;25(1):71-81.PMID: 14675733 [PubMed - indexed for MEDLINE]Related articles

Paternal transmission of mitochondrial DNA is (fortunately) rare.

Johns DR.

Ann Neurol. 2003 Oct;54(4):422-4. No abstract available. PMID: 14520651 [PubMed - indexed for MEDLINE]Related articles

A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.

Simon DK, Friedman J, Breakefield XO, Jankovic J, Brin MF, Provias J, Bressman SB, Charness ME, Tarsy D, Johns DR, Tarnopolsky MA.

Neurogenetics. 2003 Aug;4(4):199-205. Epub 2003 May 17.PMID: 12756609 [PubMed - indexed for MEDLINE]Related articles

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Horvath J, Horvath R, Karcagi V, Komoly S, Johns DR.

J Inherit Metab Dis. 2002 Aug;25(4):323-4.PMID: 12227465 [PubMed - indexed for MEDLINE]Related articles

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

Simon DK, Tarnopolsky MA, Greenamyre JT, Johns DR.

J Med Genet. 2001 Jan;38(1):58-61. No abstract available. PMID: 11332403 [PubMed - indexed for MEDLINE]Related articlesFree article

Low mutational burden of individual acquired mitochondrial DNA mutations in brain.

Simon DK, Lin MT, Ahn CH, Liu GJ, Gibson GE, Beal MF, Johns DR.

Genomics. 2001 Apr 1;73(1):113-6.PMID: 11352572 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.

Dogulu CF, Kansu T, Seyrantepe V, Ozguc M, Topaloglu H, Johns DR.

Eye (Lond). 2001 Apr;15(Pt 2):183-8.PMID: 11339587 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial dysfunction and neuromuscular disease.

Nardin RA, Johns DR.

Muscle Nerve. 2001 Feb;24(2):170-91. Review.PMID: 11180201 [PubMed - indexed for MEDLINE]Related articles

Absence of HinfI Restriction Abnormalities in Renal Oncocytoma Mitochondrial DNA.

Brooks JD, Marshall FF, Isaacs WB, Johns DR.

Mol Urol. 1999;3(1):1-3.PMID: 10851289 [PubMed - as supplied by publisher]Related articles

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease.

Simon DK, Mayeux R, Marder K, Kowall NW, Beal MF, Johns DR.

Neurology. 2000 Feb 8;54(3):703-9.PMID: 10680807 [PubMed - indexed for MEDLINE]Related articles

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation.

Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR.

Neurology. 1999 Nov 10;53(8):1787-93.PMID: 10563629 [PubMed - indexed for MEDLINE]Related articles

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.

Sudarsky L, Plotkin GM, Logigian EL, Johns DR.

Mov Disord. 1999 May;14(3):488-91.PMID: 10348475 [PubMed - indexed for MEDLINE]Related articles

Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy.

Tsao K, Aitken PA, Johns DR.

Br J Ophthalmol. 1999 May;83(5):577-81.PMID: 10216058 [PubMed - indexed for MEDLINE]Related articlesFree article

Mitochondrial disorders: clinical and genetic features.

Simon DK, Johns DR.

Annu Rev Med. 1999;50:111-27. Review.PMID: 10073267 [PubMed - indexed for MEDLINE]Related articles

Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.

Austin SA, Vriesendorp FJ, Thandroyen FT, Hecht JT, Jones OT, Johns DR.

Neurology. 1998 Nov;51(5):1447-50.PMID: 9818878 [PubMed - indexed for MEDLINE]Related articles

Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis.

van Orsouw NJ, Zhang X, Wei JY, Johns DR, Vijg J.

Genomics. 1998 Aug 15;52(1):27-36.PMID: 9740668 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy.

Perez-Atayde AR, Fox V, Teitelbaum JE, Anthony DA, Fadic R, Kalsner L, Rivkin M, Johns DR, Cox GF.

Am J Surg Pathol. 1998 Sep;22(9):1141-7.PMID: 9737248 [PubMed - indexed for MEDLINE]Related articles

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease.

Fadic R, Russell JA, Vedanarayanan VV, Lehar M, Kuncl RW, Johns DR.

Neurology. 1997 Jul;49(1):239-45.PMID: 9222196 [PubMed - indexed for MEDLINE]Related articles

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH.

Ann Neurol. 1997 Mar;41(3):314-25.PMID: 9066352 [PubMed - indexed for MEDLINE]Related articles

Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy.

Blume G, Pestronk A, Frank B, Johns DR.

Brain. 1997 Jan;120 ( Pt 1):39-45.PMID: 9055796 [PubMed - indexed for MEDLINE]Related articlesFree article

The other human genome: mitochondrial DNA and disease.

Johns DR.

Nat Med. 1996 Oct;2(10):1065-8. Review. No abstract available. PMID: 8837595 [PubMed - indexed for MEDLINE]Related articles

Myotonia in colchicine myoneuropathy.

Rutkove SB, De Girolami U, Preston DC, Freeman R, Nardin RA, Gouras GK, Johns DR, Raynor EM.

Muscle Nerve. 1996 Jul;19(7):870-5.PMID: 8965841 [PubMed - indexed for MEDLINE]Related articles

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy.

Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A.

J Biol Chem. 1996 May 31;271(22):13155-61.PMID: 8662757 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical spectrum of mitochondrial diseases.

Fadic R, Johns DR.

Semin Neurol. 1996 Mar;16(1):11-20. Review.PMID: 8879052 [PubMed - indexed for MEDLINE]Related articles

The ophthalmologic manifestations of mitochondrial disease.

Johns DR.

Semin Ophthalmol. 1995 Dec;10(4):295-302. Review.PMID: 10160216 [PubMed - indexed for MEDLINE]Related articles

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease.

Johns DR.

N Engl J Med. 1995 Sep 7;333(10):638-44. Review. No abstract available. PMID: 7637726 [PubMed - indexed for MEDLINE]Related articles

Hereditary optic neuropathies.

Johns DR, Newman NJ.

Semin Ophthalmol. 1995 Sep;10(3):203-13. Review. No abstract available. PMID: 10159745 [PubMed - indexed for MEDLINE]Related articles

MR of the brain in mitochondrial myopathy.

Wray SH, Provenzale JM, Johns DR, Thulborn KR.

AJNR Am J Neuroradiol. 1995 May;16(5):1167-73.PMID: 7639148 [PubMed - indexed for MEDLINE]Related articlesFree article

Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy.

Johns DR, Neufeld MJ, Hedges TR 3rd.

J Neuroophthalmol. 1994 Sep;14(3):135-40.PMID: 7804416 [PubMed - indexed for MEDLINE]Related articles

Cuban epidemic optic neuropathy. Mitochondrial DNA analysis.

Johns DR, Sadun AA.

J Neuroophthalmol. 1994 Sep;14(3):130-4.PMID: 7804415 [PubMed - indexed for MEDLINE]Related articles

Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. A clinicopathologic case report.

Chang TS, Johns DR, Stark WJ, Drachman DB, Green WR.

Cornea. 1994 May;13(3):269-73.PMID: 8033580 [PubMed - indexed for MEDLINE]Related articles

Association of the 11778 mitochondrial DNA mutation and demyelinating disease.

Flanigan KM, Johns DR.

Neurology. 1993 Dec;43(12):2720-2.PMID: 8255489 [PubMed - indexed for MEDLINE]Related articles

MELAS syndrome masquerading as herpes simplex encephalitis.

Johns DR, Stein AG, Wityk R.

Neurology. 1993 Dec;43(12):2471-3.PMID: 8255441 [PubMed - indexed for MEDLINE]Related articles

A maculopathy associated with the 15257 mitochondrial DNA mutation.

Heher KL, Johns DR.

Arch Ophthalmol. 1993 Nov;111(11):1495-9.PMID: 8240104 [PubMed - indexed for MEDLINE]Related articles

Identical twins who are discordant for Leber's hereditary optic neuropathy.

Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB.

Arch Ophthalmol. 1993 Nov;111(11):1491-4.PMID: 8240103 [PubMed - indexed for MEDLINE]Related articles

Heteroplasmy in Leber's hereditary optic neuropathy.

Smith KH, Johns DR, Heher KL, Miller NR.

Arch Ophthalmol. 1993 Nov;111(11):1486-90.PMID: 8240102 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia.

Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR.

Arch Ophthalmol. 1993 Nov;111(11):1482-5.PMID: 8240101 [PubMed - indexed for MEDLINE]Related articles

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

Johns DR, Neufeld MJ.

Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5.PMID: 8240356 [PubMed - indexed for MEDLINE]Related articles

Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

Johns DR, Neufeld MJ.

Am J Hum Genet. 1993 Oct;53(4):916-20.PMID: 8213820 [PubMed - indexed for MEDLINE]Related articlesFree article

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes.

Chang TS, Johns DR, Walker D, de la Cruz Z, Maumence IH, Green WR.

Arch Ophthalmol. 1993 Sep;111(9):1254-62.PMID: 8363469 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation.

Johns DR, Smith KH, Savino PJ, Miller NR.

Ophthalmology. 1993 Jul;100(7):981-6.PMID: 8321540 [PubMed - indexed for MEDLINE]Related articles

Atypical Leber's hereditary optic neuropathy with molecular confirmation.

Weiner NC, Newman NJ, Lessell S, Johns DR, Lott MT, Wallace DC.

Arch Neurol. 1993 May;50(5):470-3.PMID: 8489402 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

Johns DR, Heher KL, Miller NR, Smith KH.

Arch Ophthalmol. 1993 Apr;111(4):495-8.PMID: 8470982 [PubMed - indexed for MEDLINE]Related articles

Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome.

Johns DR, Threlkeld AB, Miller NR, Hurko O.

Am J Ophthalmol. 1993 Jan;115(1):108-9. No abstract available. PMID: 8420360 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

Johns DR, Smith KH, Miller NR.

Arch Ophthalmol. 1992 Nov;110(11):1577-81.PMID: 1444915 [PubMed - indexed for MEDLINE]Related articles

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Johns DR, Neufeld MJ, Park RD.

Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551-7.PMID: 1417830 [PubMed - indexed for MEDLINE]Related articles

Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome.

Threlkeld AB, Miller NR, Golnik KC, Griffin JW, Kuncl RW, Johns DR, Lehar M, Hurko O.

Am J Ophthalmol. 1992 Sep 15;114(3):322-8.PMID: 1524123 [PubMed - indexed for MEDLINE]Related articles