-
1
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: a study of 11 families, including descendants of the Drew family of Walworth
-
Harding A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: a study of 11 families, including descendants of the Drew family of Walworth. Brain 105 (1982) 1-28
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
2
-
-
0031647246
-
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
-
Moseley M.L., Benzow K.A., Schut L.J., Bird T.D., Gomez C.M., Barkhaus P.E., et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 51 (1998) 1666-1671
-
(1998)
Neurology
, vol.51
, pp. 1666-1671
-
-
Moseley, M.L.1
Benzow, K.A.2
Schut, L.J.3
Bird, T.D.4
Gomez, C.M.5
Barkhaus, P.E.6
-
3
-
-
0033811949
-
Genetic background of apparently idiopathic sporadic cerebellar ataxia
-
Schöls L., Szymanski S., Peters S., Przuntek H., Epplen J.T., Hardt C., et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 107 (2000) 132-137
-
(2000)
Hum Genet
, vol.107
, pp. 132-137
-
-
Schöls, L.1
Szymanski, S.2
Peters, S.3
Przuntek, H.4
Epplen, J.T.5
Hardt, C.6
-
4
-
-
0036238233
-
The etiology of sporadic adult-onset ataxia
-
Abele M., Bürk K., Schöls L., Schwartz S., Besenthal I., Dichgans J., et al. The etiology of sporadic adult-onset ataxia. Brain 125 (2002) 961-968
-
(2002)
Brain
, vol.125
, pp. 961-968
-
-
Abele, M.1
Bürk, K.2
Schöls, L.3
Schwartz, S.4
Besenthal, I.5
Dichgans, J.6
-
5
-
-
2442464954
-
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
-
Brusco A., Gellera C., Cagnoli C., Saluto A., Castucci A., Michielotto C., et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 61 (2004) 727-733
-
(2004)
Arch Neurol
, vol.61
, pp. 727-733
-
-
Brusco, A.1
Gellera, C.2
Cagnoli, C.3
Saluto, A.4
Castucci, A.5
Michielotto, C.6
-
6
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype
-
Morgan-Hughes J.A., Sweeney M.G., Cooper J.M., Hammans S.R., Brockington M., Schapira A.H., et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1271 (1995) 135-140
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 135-140
-
-
Morgan-Hughes, J.A.1
Sweeney, M.G.2
Cooper, J.M.3
Hammans, S.R.4
Brockington, M.5
Schapira, A.H.6
-
7
-
-
0027288377
-
The mitocohndrial DNA transfer RNA(lys)A → G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
Hammans S.R., Sweeney M.G., Brockington M., Lennox G.G., Lawton N.F., Kennedy C.R., et al. The mitocohndrial DNA transfer RNA(lys)A → G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 116 (1993) 617-632
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Lennox, G.G.4
Lawton, N.F.5
Kennedy, C.R.6
-
8
-
-
0028144309
-
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene
-
Fang W., Huang C.C., Chu N.S., Lee C.C., Chen R.S., Pang C.Y., et al. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. Muscle Nerve 17 (1994) 52-57
-
(1994)
Muscle Nerve
, vol.17
, pp. 52-57
-
-
Fang, W.1
Huang, C.C.2
Chu, N.S.3
Lee, C.C.4
Chen, R.S.5
Pang, C.Y.6
-
9
-
-
0035721111
-
Clinical and molecular findings in 4 new patients harbouring the mtDNA 8993T > C mutation
-
Vilarinho L., Barbot C., Carrozzo R., Calado E., Tessa A., Dionisi-Vici C., et al. Clinical and molecular findings in 4 new patients harbouring the mtDNA 8993T > C mutation. J Inherit Metab Dis 24 (2001) 883-884
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 883-884
-
-
Vilarinho, L.1
Barbot, C.2
Carrozzo, R.3
Calado, E.4
Tessa, A.5
Dionisi-Vici, C.6
-
10
-
-
0036126826
-
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
-
Carelli V., Baracca A., Barogi S., Pallotti F., Valentino M.L., Montagna P., et al. Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59 (2002) 264-270
-
(2002)
Arch Neurol
, vol.59
, pp. 264-270
-
-
Carelli, V.1
Baracca, A.2
Barogi, S.3
Pallotti, F.4
Valentino, M.L.5
Montagna, P.6
-
11
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A.F., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320 (1989) 1293-1299
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
-
12
-
-
0034066534
-
Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7
-
Modi G. Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. J Neurol Neurosurg Psychiatry 68 (2000) 393-394
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.68
, pp. 393-394
-
-
Modi, G.1
-
13
-
-
0036176614
-
Spinocerebellar ataxias due to mitochondrial defects
-
Kaplan J. Spinocerebellar ataxias due to mitochondrial defects. Neurochem Int 40 (2002) 553-557
-
(2002)
Neurochem Int
, vol.40
, pp. 553-557
-
-
Kaplan, J.1
-
15
-
-
31544480133
-
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
-
Quinzii C., Naini A., Salviati L., Trevisson E., Navas P., Dimauro S., et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78 (2006) 345-349
-
(2006)
Am J Hum Genet
, vol.78
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
Trevisson, E.4
Navas, P.5
Dimauro, S.6
-
16
-
-
23944508509
-
Mitochondrial DNA polymerase W784S mutation: a common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaki M., et al. Mitochondrial DNA polymerase W784S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77 (2005) 430-441
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
Lappalainen, I.4
Luoma, P.T.5
Rantamaki, M.6
-
17
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
-
Winterthun S., Ferrari G., He L., Taylor R.W., Zeviani M., Turnbull D.M., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64 (2005) 1204-1208
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
Taylor, R.W.4
Zeviani, M.5
Turnbull, D.M.6
-
18
-
-
0034720861
-
Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion
-
Labuda M., Labuda D., Miranda C., Poirier J., Soong B.W., Barucha N.E., et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 54 (2000) 2322-2324
-
(2000)
Neurology
, vol.54
, pp. 2322-2324
-
-
Labuda, M.1
Labuda, D.2
Miranda, C.3
Poirier, J.4
Soong, B.W.5
Barucha, N.E.6
-
19
-
-
0028359544
-
MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family
-
Huang C.C., Chen R.S., Chen C.M., Wang H.S., Lee C.C., Pang C.Y., et al. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry 57 (1994) 586-589
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 586-589
-
-
Huang, C.C.1
Chen, R.S.2
Chen, C.M.3
Wang, H.S.4
Lee, C.C.5
Pang, C.Y.6
-
20
-
-
0029038116
-
If almost nothing goes wrong, is almost everything all right? Interpreting small numerators
-
Newman T.B. If almost nothing goes wrong, is almost everything all right? Interpreting small numerators. JAMA 274 (1995) 1013
-
(1995)
JAMA
, vol.274
, pp. 1013
-
-
Newman, T.B.1
-
21
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population
-
Majamaa K., Moilanen J.S., Uimonen S., Remes A.M., Salmela P.I., Karppa M., et al. Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 63 (1998) 447-454
-
(1998)
Am J Hum Genet
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
Remes, A.M.4
Salmela, P.I.5
Karppa, M.6
-
22
-
-
0042204972
-
Epidemiology of the mitochondrial DNA 8344A > G mutation for myoclonus epilepsy and ragged red fibres (MERRF) syndrome
-
Remes A.M., Kärppä M., Rusanen H., Majamaa K., Hassinen I.E., Moilanen J.S., et al. Epidemiology of the mitochondrial DNA 8344A > G mutation for myoclonus epilepsy and ragged red fibres (MERRF) syndrome. J Neurol Neurosurg Psychiatry 74 (2003) 1158-1159
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 1158-1159
-
-
Remes, A.M.1
Kärppä, M.2
Rusanen, H.3
Majamaa, K.4
Hassinen, I.E.5
Moilanen, J.S.6
-
23
-
-
0036582612
-
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
-
Chinnery P.F., Brown D.T., Archibald K., Curtis A., and Turnbull D.M. Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. J Med Genet 39 (2002) e22
-
(2002)
J Med Genet
, vol.39
-
-
Chinnery, P.F.1
Brown, D.T.2
Archibald, K.3
Curtis, A.4
Turnbull, D.M.5
-
24
-
-
0035185070
-
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
-
Rovio A.T., Marchington D.R., Donat S., Schuppe H.S., Abel J., Fritsche E., et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29 (2001) 261-262
-
(2001)
Nat Genet
, vol.29
, pp. 261-262
-
-
Rovio, A.T.1
Marchington, D.R.2
Donat, S.3
Schuppe, H.S.4
Abel, J.5
Fritsche, E.6
-
25
-
-
2142705756
-
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
-
Naviaux R.K., and Nguyen K.V. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol 55 (2004) 706-712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
26
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28 (2001) 211-212
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
27
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G., Martin J.J., Dermaut B., Lofgren A., Wibail A., Ververken D., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Dis 13 (2003) 133-142
-
(2003)
Neuromuscul Dis
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
Lofgren, A.4
Wibail, A.5
Ververken, D.6
|