-
1
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
11431686 10.1038/90034
-
Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Löfgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
2
-
-
39749121457
-
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
-
10.1093/brain/awn007
-
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 13:818-828
-
(2008)
Brain
, vol.13
, pp. 818-828
-
-
Engelsen, B.A.1
Tzoulis, C.2
Karlsen, B.3
Lillebø, A.4
Laegreid, L.M.5
Aasly, J.6
Zeviani, M.7
Bindoff, L.A.8
-
3
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
15122711 10.1002/ana.20079 1:CAS:528:DC%2BD2cXlsFCit70%3D
-
Naviaux RK, Nguyen KV (2004) POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55:706-712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
4
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
12565911 10.1016/S0960-8966(02)00216-X
-
Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C (2003) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13:133-142
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
Löfgren, A.4
Wibail, A.5
Ververken, D.6
Tack, P.7
Dehaene, I.8
Van Zandijcke, M.9
Moonen, M.10
Ceuterick, C.11
De Jonghe, P.12
Van Broeckhoven, C.13
-
5
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: Clinical and molecular genetic study
-
15351195 10.1016/S0140-6736(04)16983-3 1:CAS:528:DC%2BD2cXntlaqsLo%3D
-
Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A (2004) Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364:875-882
-
(2004)
Lancet
, vol.364
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
Kaukonen, J.A.4
Nupponen, N.N.5
Chalmers, R.M.6
Oldfors, A.7
Rautakorpi, I.8
Peltonen, L.9
Majamaa, K.10
Somer, H.11
Suomalainen, A.12
-
6
-
-
0346055101
-
Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility
-
14688158 10.1093/humrep/deh038
-
Jensen M, Leffers H, Petersen JH, Nyboe Andersen A, Jørgensen N, Carlsen E, Jensen TK, Skakkebaek NE, Rajpert-De Meyts E (2004) Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod 19:65-70
-
(2004)
Hum Reprod
, vol.19
, pp. 65-70
-
-
Jensen, M.1
Leffers, H.2
Petersen, J.H.3
Nyboe Andersen, A.4
Jørgensen, N.5
Carlsen, E.6
Jensen, T.K.7
Skakkebaek, N.E.8
Rajpert-De Meyts, E.9
-
7
-
-
84872313692
-
Neurodegeneration in primary mitochondrial disorders
-
Reeve AK, Krishnan KJ, Duchen MR, Turnbull DM (eds) Springer, Berlin
-
Lax NZ, Jaros E (2012) Neurodegeneration in primary mitochondrial disorders. In: Reeve AK, Krishnan KJ, Duchen MR, Turnbull DM (eds) Mitochondrial dysfunction in neurodegenerative disorders. Springer, Berlin, pp 21-42
-
(2012)
Mitochondrial Dysfunction in Neurodegenerative Disorders
, pp. 21-42
-
-
Lax, N.Z.1
Jaros, E.2
-
8
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
9837813 10.1086/302150 1:CAS:528:DyaK1MXltF2qsw%3D%3D
-
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
Zelante, L.7
Gasparini, P.8
Marzella, R.9
Rocchi, M.10
Bayona-Bafaluy, M.P.11
Enriquez, J.A.12
Uziel, G.13
Bertini, E.14
Dionisi-Vici, C.15
Franco, B.16
Meitinger, T.17
Zeviani, M.18
-
9
-
-
0032816291
-
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
-
10443880 10.1002/1531-8249(199908)46:2<161: AID-ANA4>3.0.CO;2-O 1:CAS:528:DyaK1MXlsFWnt7k%3D
-
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46:161-166
-
(1999)
Ann Neurol
, vol.46
, pp. 161-166
-
-
Tiranti, V.1
Jaksch, M.2
Hofmann, S.3
Galimberti, C.4
Hoertnagel, K.5
Lulli, L.6
Freisinger, P.7
Bindoff, L.8
Gerbitz, K.D.9
Comi, G.P.10
Uziel, G.11
Zeviani, M.12
Meitinger, T.13
-
10
-
-
0141959153
-
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
-
14557577 10.1212/01.WNL.0000082391.98672.0A 1:CAS:528: DC%2BD3sXns1ChsL0%3D
-
Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A (2003) SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. Neurology 61:991-993
-
(2003)
Neurology
, vol.61
, pp. 991-993
-
-
Moslemi, A.R.1
Tulinius, M.2
Darin, N.3
Aman, P.4
Holme, E.5
Oldfors, A.6
-
11
-
-
0038275810
-
Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
-
12812953
-
Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, Tortori-Donati P (2003) Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. Am J Neuroradiol 24:1188-1891
-
(2003)
Am J Neuroradiol
, vol.24
, pp. 1188-1891
-
-
Rossi, A.1
Biancheri, R.2
Bruno, C.3
Di Rocco, M.4
Calvi, A.5
Pessagno, A.6
Tortori-Donati, P.7
-
12
-
-
10644244318
-
Neuroimaging of mitochondrial disorders
-
16120407 10.1016/j.mito.2004.07.008 1:CAS:528:DC%2BD2cXhtVCgs7jM
-
Haas R, Dietrich R (2004) Neuroimaging of mitochondrial disorders. Mitochondrion 4:471-490
-
(2004)
Mitochondrion
, vol.4
, pp. 471-490
-
-
Haas, R.1
Dietrich, R.2
-
13
-
-
33644917677
-
Toxic and metabolic brain disorders
-
Barkovich A (ed) Lippincott Williams and Wilkins, Philadelphia
-
Barkovich AJ (2005) Toxic and metabolic brain disorders. In: Barkovich A (ed) Pediatric neuroimaging. Lippincott Williams and Wilkins, Philadelphia, pp 76-189
-
(2005)
Pediatric Neuroimaging
, pp. 76-189
-
-
Barkovich, A.J.1
-
14
-
-
0027228506
-
Mitochondrial disorders: Analysis of their clinical and imaging characteristics
-
8237691 1:STN:280:DyaK2c%2Fls1Smtg%3D%3D
-
Barkovich AJ, Good WV, Koch TK, Berg BO (1993) Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am J Neuroradiol 14:1119-1137
-
(1993)
Am J Neuroradiol
, vol.14
, pp. 1119-1137
-
-
Barkovich, A.J.1
Good, W.V.2
Koch, T.K.3
Berg, B.O.4
-
15
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
14874135 10.1136/jnnp.14.3.216 1:STN:280:DyaG38%2FgsVantw%3D%3D
-
Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
16
-
-
0034082409
-
Hypertrophic olivary degeneration: Metaanalysis of the temporal evolution of MR findings
-
10871017 1:STN:280:DC%2BD3cvosVyqug%3D%3D
-
Goyal M, Versnick E, Tuite P, Cyr JS, Kucharczyk W, Montanera W, Willinsky R, Mikulis D (2000) Hypertrophic olivary degeneration: metaanalysis of the temporal evolution of MR findings. Am J Neuroradiol 21:1073-1077
-
(2000)
Am J Neuroradiol
, vol.21
, pp. 1073-1077
-
-
Goyal, M.1
Versnick, E.2
Tuite, P.3
Cyr, J.S.4
Kucharczyk, W.5
Montanera, W.6
Willinsky, R.7
Mikulis, D.8
-
17
-
-
0001094628
-
Enlargement of the inferior olivary nucleus in association with lesions of the central tegmental tract or dentate nucleus
-
13897315 10.1093/brain/84.3.341 1:STN:280:DyaF38%2FjvVKltg%3D%3D
-
Gautier JC, Blackwood W (1961) Enlargement of the inferior olivary nucleus in association with lesions of the central tegmental tract or dentate nucleus. Brain 84:341-361
-
(1961)
Brain
, vol.84
, pp. 341-361
-
-
Gautier, J.C.1
Blackwood, W.2
-
18
-
-
0036263499
-
Generation of symptomatic palatal tremor is not correlated with inferior olivary hypertrophy
-
12023323 10.1093/brain/awf126
-
Nishie M, Yoshida Y, Hirata Y, Matsunaga M (2002) Generation of symptomatic palatal tremor is not correlated with inferior olivary hypertrophy. Brain 125:1348-1357
-
(2002)
Brain
, vol.125
, pp. 1348-1357
-
-
Nishie, M.1
Yoshida, Y.2
Hirata, Y.3
Matsunaga, M.4
-
19
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases
-
16638794 10.1093/brain/awl097
-
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685-1692
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
Aasly, J.4
Zeviani, M.5
Winterthun, S.6
Ferrari, G.7
Aarseth, J.H.8
Bindoff, L.A.9
-
20
-
-
53149139324
-
Palatal tremor and facial dyskinesia in a patient with POLG1 mutation
-
18581472 10.1002/mds.22178
-
Johansen KK, Bindoff LA, Rydland J, Aasly JO (2008) Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Mov Disord 23:1624-1626
-
(2008)
Mov Disord
, vol.23
, pp. 1624-1626
-
-
Johansen, K.K.1
Bindoff, L.A.2
Rydland, J.3
Aasly, J.O.4
-
21
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
-
15824347 10.1212/01.WNL.0000156516.77696.5A 1:STN:280: DC%2BD2M7ptFektg%3D%3D
-
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 64:1204-1208
-
(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
Engelsen, B.A.7
Moen, G.8
Bindoff, L.A.9
-
22
-
-
0036677381
-
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations
-
12169463
-
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Am J Neuroradiol 23:1095-1100
-
(2002)
Am J Neuroradiol
, vol.23
, pp. 1095-1100
-
-
Farina, L.1
Chiapparini, L.2
Uziel, G.3
Bugiani, M.4
Zeviani, M.5
Savoiardo, M.6
-
23
-
-
58149188000
-
Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G→C mutation
-
19135921 10.1016/j.clinimag.2008.08.001
-
Xie S, Xiao JX, Qi ZY, Yang YL, Jiang XX (2009) Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G→C mutation. Clin Imaging 33:1-6
-
(2009)
Clin Imaging
, vol.33
, pp. 1-6
-
-
Xie, S.1
Xiao, J.X.2
Qi, Z.Y.3
Yang, Y.L.4
Jiang, X.X.5
-
24
-
-
34548838288
-
Juvenile global tremor: A clinicopathologic syndrome mimicking polymyoclonia
-
17903673 10.1016/j.pediatrneurol.2007.06.015
-
Melick N, Chutorian A, Miller D (2007) Juvenile global tremor: a clinicopathologic syndrome mimicking polymyoclonia. Pediatr Neurol 37:280-282
-
(2007)
Pediatr Neurol
, vol.37
, pp. 280-282
-
-
Melick, N.1
Chutorian, A.2
Miller, D.3
-
25
-
-
0000165473
-
Deux cas de myoclonies synchrones et rythmées vélo- pliaryngo-oculo-diaphragmatiques. le problème anatomique et physio-pathologique de ce syndrome
-
Guillain G, Mollaret P (1931) Deux cas de myoclonies synchrones et rythmées vélo-pliaryngo-oculo-diaphragmatiques. Le problème anatomique et physio-pathologique de ce syndrome. Rev Neurol (Paris) 2545:566
-
(1931)
Rev Neurol (Paris)
, vol.2545
, pp. 566
-
-
Guillain, G.1
Mollaret, P.2
-
27
-
-
0009217830
-
La olive bulbar. Su estructura function y patologia
-
Trelles J-O (1943) La olive bulbar. Su estructura function y patologia. Rev Neuropsiquiat 6:433-452
-
(1943)
Rev Neuropsiquiat
, vol.6
, pp. 433-452
-
-
Trelles, J.-O.1
-
28
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
-
15689359 10.1093/brain/awh410
-
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128:723-731
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
Parini, R.7
Simonati, A.8
Santer, R.9
Zeviani, M.10
-
29
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
16080118 10.1086/444548 1:CAS:528:DC%2BD2MXpsFCku7k%3D
-
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77:430-441
-
(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
Goethem, G.V.7
Lofgren, A.8
Hackman, P.9
Paetau, A.10
Kaakkola, S.11
Majamaa, K.12
Varilo, T.13
Udd, B.14
Kaariainen, H.15
Bindoff, L.A.16
Suomalainen, A.17
-
30
-
-
48549101970
-
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
-
18585914 10.1016/j.nmd.2008.05.009
-
Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ (2008) Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 18:626-632
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 626-632
-
-
Milone, M.1
Brunetti-Pierri, N.2
Tang, L.Y.3
Kumar, N.4
Mezei, M.M.5
Josephs, K.6
Powell, S.7
Simpson, E.8
Wong, L.J.9
-
31
-
-
77953588757
-
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
-
20438629 10.1186/1471-2377-10-29
-
Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J (2010) POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. BMC Neurol 10:29
-
(2010)
BMC Neurol
, vol.10
, pp. 29
-
-
Komulainen, T.1
Hinttala, R.2
Kärppä, M.3
Pajunen, L.4
Finnilä, S.5
Tuominen, H.6
Rantala, H.7
Hassinen, I.8
Majamaa, K.9
Uusimaa, J.10
|