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Volumn 36, Issue 5, 2009, Pages 543-553

Mitochondrial ataxias

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA; UBIQUINONE;

EID: 69549126358     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100008027     Document Type: Review
Times cited : (38)

References (96)
  • 1
    • 48249156188 scopus 로고    scopus 로고
    • Mitochondrial disorders in the nervous system
    • DiMauro S, Schon EA. Mitochondrial disorders in the nervous system. Annu Rev Neurosci. 2008;31:91-123.
    • (2008) Annu Rev Neurosci , vol.31 , pp. 91-123
    • DiMauro, S.1    Schon, E.A.2
  • 2
    • 4944260285 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • Zeviani M, Di Donato S. Mitochondrial disorders. Brain. 2004;127:2153-2172
    • (2004) Brain , vol.127 , pp. 2153-2172
    • Zeviani, M.1    Di Donato, S.2
  • 4
    • 33645581765 scopus 로고    scopus 로고
    • Overview on visceral manifestations of mitochondrial disorders
    • Finsterer J. Overview on visceral manifestations of mitochondrial disorders. Neth J Med. 2006;64:61-71.
    • (2006) Neth J Med , vol.64 , pp. 61-71
    • Finsterer, J.1
  • 6
    • 68349086732 scopus 로고    scopus 로고
    • Ataxias with autosomal, X-chromosomal, or maternal inheritance
    • In press 2009
    • Finsterer J. Ataxias with autosomal, X-chromosomal, or maternal inheritance. J Neurol Sci. 2009; In press 2009.
    • (2009) J Neurol Sci
    • Finsterer, J.1
  • 7
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007;30:575-621.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 9
    • 24744464580 scopus 로고    scopus 로고
    • The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
    • Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005;280:31341-31346
    • (2005) J Biol Chem , vol.280 , pp. 31341-31346
    • Chan, S.S.1    Longley, M.J.2    Copeland, W.C.3
  • 10
    • 85036825277 scopus 로고    scopus 로고
    • EFNS guidelines for the molecular diagnosis of neurogenetic disorders (II). Mitochondrial disorders and dementia
    • In press 2009
    • Finsterer J, Harbo HF, Baets J, van Broeckhoven C, Di Donato S, Fontaine B, et al. EFNS guidelines for the molecular diagnosis of neurogenetic disorders (II). Mitochondrial disorders and dementia. Eur J Neurol. 2009;In press 2009.
    • (2009) Eur J Neurol
    • Finsterer, J.1    Harbo, H.F.2    Baets, J.3    Van Broeckhoven, C.4    Di Donato, S.5    Fontaine, B.6
  • 11
    • 37849038344 scopus 로고    scopus 로고
    • MELAS syndrome in a patient with a point mutation in MTTS1
    • Lindberg C, Moslemi AR, Oldfors A. MELAS syndrome in a patient with a point mutation in MTTS1. Acta Neurol Scand. 2008;117:128-132
    • (2008) Acta Neurol Scand , vol.117 , pp. 128-132
    • Lindberg, C.1    Moslemi, A.R.2    Oldfors, A.3
  • 13
    • 52649168232 scopus 로고    scopus 로고
    • Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report
    • Teive HA, Munhoz RP, Muzzio JA, Scola RH, Kay CK, Raskin S, et al. Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. Mov Disord. 2008;23:1191-1192
    • (2008) Mov Disord , vol.23 , pp. 1191-1192
    • Teive, H.A.1    Munhoz, R.P.2    Muzzio, J.A.3    Scola, R.H.4    Kay, C.K.5    Raskin, S.6
  • 14
    • 39649093667 scopus 로고    scopus 로고
    • Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation
    • DOI 10.3174/ajnr.A0865
    • Ito S, Shirai W, Asahina M, Hattori T. Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. Am J Neuroradiol. 2008;29:392-395 (Pubitemid 351287903)
    • (2008) American Journal of Neuroradiology , vol.29 , Issue.2 , pp. 392-395
    • Ito, S.1    Shirai, W.2    Asahina, M.3    Hattori, T.4
  • 15
    • 33646884592 scopus 로고    scopus 로고
    • Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: An infantile case
    • DOI 10.2310/7010.2006.00010
    • Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, et al. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. J Child Neurol. 2006;21:79-82. (Pubitemid 43778772)
    • (2006) Journal of Child Neurology , vol.21 , Issue.1 , pp. 79-82
    • Orcesi, S.1    Gorni, K.2    Termine, C.3    Uggetti, C.4    Veggiotti, P.5    Carrara, F.6    Zeviani, M.7    Berardinelli, A.8    Lanzi, G.9
  • 16
    • 38749117235 scopus 로고    scopus 로고
    • Fukuhara disease
    • Fukuhara N. Fukuhara disease. Brain Nerve. 2008;60:53-58
    • (2008) Brain Nerve , vol.60 , pp. 53-58
    • Fukuhara, N.1
  • 17
    • 33846040667 scopus 로고    scopus 로고
    • Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys
    • DOI 10.1212/01.wnl.0000250334.48038.7a, PII 0000611420070102000016
    • Horvath R, Kley RA, Lochmüller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology. 2007;68:56-58 (Pubitemid 46058553)
    • (2007) Neurology , vol.68 , Issue.1 , pp. 56-58
    • Horvath, R.1    Kley, R.A.2    Lochmuller, H.3    Vorgerd, M.4
  • 22
    • 0034910899 scopus 로고    scopus 로고
    • High mitochondrial DNA T8993G mutation (>90%) without typical features of leigh's and NARP syndromes
    • Tsao CY, Mendell JR, Bartholomew D. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes. J Child Neurol. 2001;16:533-535 (Pubitemid 32725393)
    • (2001) Journal of Child Neurology , vol.16 , Issue.7 , pp. 533-535
    • Tsao, C.-Y.1    Mendell, J.R.2    Bartholomew, D.3
  • 23
    • 0033792234 scopus 로고    scopus 로고
    • A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa)with a T-to-C point mutation at nt 8993 of mitochondrial DNA
    • Mitani M, Jinnai K, Takahashi K, Koide R, Tsuji S. A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA. Clin Neurol. 2000;40:600-604 (Pubitemid 30797460)
    • (2000) Clinical Neurology , vol.40 , Issue.6 , pp. 600-604
    • Mitani, M.1    Jinnai, K.2    Takahashi, K.3    Koide, R.4    Tsuji, S.5
  • 25
    • 0030749664 scopus 로고    scopus 로고
    • Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
    • Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997;63:16-22. (Pubitemid 27317355)
    • (1997) Journal of Neurology Neurosurgery and Psychiatry , vol.63 , Issue.1 , pp. 16-22
    • Uziel, G.1    Moroni, I.2    Lamantea, E.3    Fratta, G.M.4    Ciceri, E.5    Carrara, F.6    Zeviani, M.7
  • 26
    • 44349099276 scopus 로고    scopus 로고
    • Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
    • DOI 10.1055/s-2008-1065355
    • Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, et al. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics. 2007;38:313-316 (Pubitemid 351737992)
    • (2007) Neuropediatrics , vol.38 , Issue.6 , pp. 313-316
    • Childs, A.-M.1    Hutchin, T.2    Pysden, K.3    Highet, L.4    Bamford, J.5    Livingston, J.6    Crow, Y.J.7
  • 29
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediat Neurol. 2008;39:223-235
    • (2008) Pediat Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 30
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • DOI 10.1002/ana.410340612
    • Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNAis a common cause of Leigh's syndrome. Ann Neurol. 1993;34:827-834 (Pubitemid 23357897)
    • (1993) Annals of Neurology , vol.34 , Issue.6 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3    Devivo, D.C.4    Dimauro, S.5
  • 33
    • 55949107826 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: Electro-vectorcardiographic evolution for left septal fascicular block of the his bundle
    • Riera AR, Kaiser E, Levine P, Schapachnik E, Dubner S, Ferreira C, et al. Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle. J Electrocardiol. 2008;41:675-678
    • (2008) J Electrocardiol , vol.41 , pp. 675-678
    • Riera, A.R.1    Kaiser, E.2    Levine, P.3    Schapachnik, E.4    Dubner, S.5    Ferreira, C.6
  • 36
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992;1:368-371
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3    Sandkuijl, L.A.4    De Vijlder, M.F.5    Struyvenberg, P.A.6
  • 37
    • 0029031215 scopus 로고
    • Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation
    • Van den Ouweland JM, Lemkes HH, Gerbitz KD, Maassen JA, et al. Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. Muscle Nerve. 1995;3:S124-30.
    • (1995) Muscle Nerve , vol.3
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Gerbitz, K.D.3    Maassen, J.A.4
  • 38
    • 1642324248 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness (MIDD) syndrome: A clinical and molecular genetic study of a Taiwanese family
    • Chen YN, Liou CW, Huang CC, Lin TK, Wei YH. Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family. Chang Gung Med J. 2004;27:66-73.
    • (2004) Chang Gung Med J , vol.27 , pp. 66-73
    • Chen, Y.N.1    Liou, C.W.2    Huang, C.C.3    Lin, T.K.4    Wei, Y.H.5
  • 39
    • 18644369753 scopus 로고    scopus 로고
    • A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)
    • DOI 10.2169/internalmedicine.44.328
    • Kobayashi Z, Tsunemi T, Miake H, Tanaka S, Watabiki S, Morokuma Y. A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI). Intern Med. 2005;44:328-331 (Pubitemid 40663037)
    • (2005) Internal Medicine , vol.44 , Issue.4 , pp. 328-331
    • Kobayashi, Z.1    Tsunemi, T.2    Miake, H.3    Tanaka, S.4    Watabiki, S.5    Morokuma, Y.6
  • 40
    • 0031005697 scopus 로고    scopus 로고
    • Mitochondrial dysfunction with myoclonus epilepsy and ragged red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis
    • DOI 10.1002/(SICI)1097-4598(199707)20:7<833::AID-MUS7>3.0.CO;2-8
    • Naumann M, Kiefer R, Toyka KV, Sommer C, Seibel P, Reichmann H. Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis. Muscle Nerve. 1997;20:833-839 (Pubitemid 27250669)
    • (1997) Muscle and Nerve , vol.20 , Issue.7 , pp. 833-839
    • Naumann, M.1    Kiefer, R.2    Toyka, K.V.3    Sommer, C.4    Seibel, P.5    Reichmann, H.6
  • 44
    • 0029748322 scopus 로고    scopus 로고
    • Neurological presentations of mitochondrial diseases
    • Zeviani M, Bertagnolio B, Uziel G. Neurological presentations of mitochondrial diseases. J Inherit Metab Dis. 1996;19:504-520
    • (1996) J Inherit Metab Dis , vol.19 , pp. 504-520
    • Zeviani, M.1    Bertagnolio, B.2    Uziel, G.3
  • 45
    • 4444311185 scopus 로고    scopus 로고
    • Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
    • DOI 10.1002/ajmg.a.30073
    • Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet. 2004;128A:195-198 (Pubitemid 39162947)
    • (2004) American Journal of Medical Genetics , vol.128 A , Issue.2 , pp. 195-198
    • Salviati, L.1    Freehauf, C.2    Sacconi, S.3    Dimauro, S.4    Thoma, J.5    Tsai, A.C.-H.6
  • 46
    • 0029010022 scopus 로고
    • Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases
    • Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, et al. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve. 1995;18:753-760
    • (1995) Muscle Nerve , vol.18 , pp. 753-760
    • Kawai, H.1    Akaike, M.2    Yokoi, K.3    Nishida, Y.4    Kunishige, M.5    Mine, H.6
  • 47
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006;38:570-575
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3    Carrara, F.4    D'Adamo, P.5    Calvo, S.6
  • 51
    • 12544249406 scopus 로고    scopus 로고
    • Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
    • Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology. 2005;64:371-373
    • (2005) Neurology , vol.64 , pp. 371-373
    • Hudson, G.1    Deschauer, M.2    Busse, K.3    Zierz, S.4    Chinnery, P.F.5
  • 53
    • 33751110611 scopus 로고    scopus 로고
    • Alpers syndrome: Progressive neuronal degeneration of children with liver disease
    • DOI 10.1017/S0012162206002209, PII S0012162206002209
    • Gordon N. Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol. 2006;48:1001-1003 (Pubitemid 44768806)
    • (2006) Developmental Medicine and Child Neurology , vol.48 , Issue.12 , pp. 1001-1003
    • Gordon, N.1
  • 54
    • 0032900339 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome
    • DOI 10.1002/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B
    • Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, et al. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol. 1999;45:54-58 (Pubitemid 29036432)
    • (1999) Annals of Neurology , vol.45 , Issue.1 , pp. 54-58
    • Naviaux, R.K.1    Nyhan, W.L.2    Barshop, B.A.3    Poulton, J.4    Markusic, D.5    Karpinski, N.C.6    Haas, R.H.7
  • 57
    • 35649024143 scopus 로고    scopus 로고
    • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    • DOI 10.1093/brain/awm242
    • Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain. 2007;130:3032-3040 (Pubitemid 350033977)
    • (2007) Brain , vol.130 , Issue.11 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3    Herva, R.4    Suomalainen, A.5    Lonnqvist, T.6
  • 59
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348:2656-2668
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 60
    • 0346025687 scopus 로고    scopus 로고
    • ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy
    • DOI 10.1093/hmg/ddh010
    • Nishigaki Y, Marti R, Hirano M. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet. 2004; 13:91-101. (Pubitemid 38072138)
    • (2004) Human Molecular Genetics , vol.13 , Issue.1 , pp. 91-101
    • Nishigaki, Y.1    Marti, R.2    Hirano, M.3
  • 61
    • 1642451711 scopus 로고    scopus 로고
    • Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays
    • DOI 10.1373/clinchem.2003.026179
    • Marti R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem. 2004;50:120-124 (Pubitemid 38125707)
    • (2004) Clinical Chemistry , vol.50 , Issue.1 , pp. 120-124
    • Marti, R.1    Spinazzola, A.2    Tadesse, S.3    Nishino, I.4    Nishigaki, Y.5    Hirano, M.6
  • 62
    • 0036155708 scopus 로고    scopus 로고
    • Diagnosis and management of mitochondrial diseases
    • Gillis L, Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin N Am. 2002;49:203-219
    • (2002) Pediatr Clin N Am , vol.49 , pp. 203-219
    • Gillis, L.1    Kaye, E.2
  • 63
    • 0032920837 scopus 로고    scopus 로고
    • Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
    • Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999;8:743-749 (Pubitemid 29189041)
    • (1999) Human Molecular Genetics , vol.8 , Issue.5 , pp. 743-749
    • Allikmets, R.1    Raskind, W.H.2    Hutchinson, A.3    Schueck, N.D.4    Dean, M.5    Koeller, D.M.6
  • 64
    • 34147158934 scopus 로고    scopus 로고
    • Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis
    • DOI 10.1182/blood-2006-04-015768
    • Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD. Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood. 2007;109:3567-3569 (Pubitemid 46572551)
    • (2007) Blood , vol.109 , Issue.8 , pp. 3567-3569
    • Pondarre, C.1    Campagna, D.R.2    Antiochos, B.3    Sikorski, L.4    Mulhern, H.5    Fleming, M.D.6
  • 66
    • 0035672913 scopus 로고    scopus 로고
    • X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
    • DOI 10.1046/j.1365-2141.2001.03015.x
    • Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J Haematol. 2001;115:910-917 (Pubitemid 34042908)
    • (2001) British Journal of Haematology , vol.115 , Issue.4 , pp. 910-917
    • Maguire, A.1    Hellier, K.2    Hammans, S.3    May, A.4
  • 69
    • 38549119549 scopus 로고    scopus 로고
    • A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation
    • Liguori M, La Russa A, Manna I, Andreoli V, Caracciolo M, Spadafora P, et al0. A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. J Neurol. 2008;255:127-129
    • (2008) J Neurol , vol.255 , pp. 127-129
    • Liguori, M.1    La Russa, A.2    Manna, I.3    Andreoli, V.4    Caracciolo, M.5    Spadafora, P.6
  • 70
    • 0032569825 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
    • DOI 10.1016/S0022-510X(98)00249-4, PII S0022510X98002494
    • Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci. 1998;161:57-65. (Pubitemid 28559184)
    • (1998) Journal of the Neurological Sciences , vol.161 , Issue.1 , pp. 57-65
    • Lonnqvist, T.1    Paetau, A.2    Nikali, K.3    Von Boguslawski, K.4    Pihko, H.5
  • 71
    • 27544440060 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
    • DOI 10.1093/hmg/ddi328
    • Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005;14:2981-2990 (Pubitemid 41535463)
    • (2005) Human Molecular Genetics , vol.14 , Issue.20 , pp. 2981-2990
    • Nikali, K.1    Suomalainen, A.2    Saharinen, J.3    Kuokkanen, M.4    Spelbrink, J.N.5    Lonnqvist, T.6    Peltonen, L.7
  • 72
    • 56049111329 scopus 로고    scopus 로고
    • Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
    • Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008;17:3822-3835
    • (2008) Hum Mol Genet , vol.17 , pp. 3822-3835
    • Hakonen, A.H.1    Goffart, S.2    Marjavaara, S.3    Paetau, A.4    Cooper, H.5    Mattila, K.6
  • 73
    • 58149163606 scopus 로고    scopus 로고
    • Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
    • Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet. 2009;18:328-340
    • (2009) Hum Mol Genet , vol.18 , pp. 328-340
    • Goffart, S.1    Cooper, H.M.2    Tyynismaa, H.3    Wanrooij, S.4    Suomalainen, A.5    Spelbrink, J.N.6
  • 78
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346:1458-1463
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 86
    • 33646427709 scopus 로고    scopus 로고
    • Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
    • Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006;43:385-393
    • (2006) J Med Genet , vol.43 , pp. 385-393
    • Davey, K.M.1    Parboosingh, J.S.2    McLeod, D.R.3    Chan, A.4    Casey, R.5    Ferreira, P.6
  • 89
    • 0015547804 scopus 로고
    • Hypoplastic anemia, Friedreich's ataxia and chromosomal breakage: Case report and review of similar disorders
    • Samad FU, Engel E, Hartmann RC. Hypoplastic anemia, Friedreich's ataxia and chromosomal breakage: case report and review of similar disorders. South Med J. 1973;66:135-140
    • (1973) South Med J , vol.66 , pp. 135-140
    • Samad, F.U.1    Engel, E.2    Hartmann, R.C.3
  • 90
    • 5444262935 scopus 로고    scopus 로고
    • The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast
    • DOI 10.1093/hmg/ddh232
    • Campanella A, Isaya G, O'Neill HA, Santambrogio P, Cozzi A, Arosio P, et al. The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast. Hum Mol Genet. 2004;13:2279-2288 (Pubitemid 39359926)
    • (2004) Human Molecular Genetics , vol.13 , Issue.19 , pp. 2279-2288
    • Campanella, A.1    Isaya, G.2    O'Neill, H.A.3    Santambrogio, P.4    Cozzi, A.5    Arosio, P.6    Levi, S.7
  • 91
    • 57049149030 scopus 로고    scopus 로고
    • Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
    • Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, et al. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol. 2009;50:215-221
    • (2009) J Hepatol , vol.50 , pp. 215-221
    • Parini, R.1    Furlan, F.2    Notarangelo, L.3    Spinazzola, A.4    Uziel, G.5    Strisciuglio, P.6
  • 95
    • 0029146967 scopus 로고
    • Tissue distribution and disease manifestations of the tRNA(Lys) a - >G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
    • Oldfors A, Holme E, Tulinius M, Larsson NG. Tissue distribution and disease manifestations of the tRNA(Lys) A - >G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol. 1995;90:328-333
    • (1995) Acta Neuropathol , vol.90 , pp. 328-333
    • Oldfors, A.1    Holme, E.2    Tulinius, M.3    Larsson, N.G.4
  • 96
    • 27144482439 scopus 로고    scopus 로고
    • Two new mutations in the MTATP6 gene associated with Leigh syndrome
    • DOI 10.1055/s-2005-872845
    • Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics. 2005;36:314-318 (Pubitemid 41501118)
    • (2005) Neuropediatrics , vol.36 , Issue.5 , pp. 314-318
    • Moslemi, A.-R.1    Darin, N.2    Tulinius, M.3    Oldfors, A.4    Holme, E.5


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