-
1
-
-
0027360029
-
The spectrum of mitochondrial DNA mutations in families withLeber hereditary optic neuroretinopathy
-
Huoponen, K.; Lamminen, T.; Juvonen, V.; Aula, P.; Nikoskelainen, E.; Savontaus, M.-L. The spectrum of mitochondrial DNA mutations in families withLeber hereditary optic neuroretinopathy Hum Genet 1993 10.1007/BF01247339 92 379
-
(1993)
Hum Genet
, vol.92
, pp. 379
-
-
Huoponen, K.1
Lamminen, T.2
Juvonen, V.3
Aula, P.4
Nikoskelainen, E.5
Savontaus, M.-L.6
-
2
-
-
0027458564
-
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene
-
Howell, N.; Kubacka, J.; Halvorsson, S.; Mackey, D. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene Genetics 1993 10.1093/genetics/133.1.133 133 133
-
(1993)
Genetics
, vol.133
, pp. 133
-
-
Howell, N.1
Kubacka, J.2
Halvorsson, S.3
Mackey, D.4
-
3
-
-
0026337654
-
Cytochrome b mutations in Leber hereditary optic neuropathy
-
Johns, D.R.; Neufeld, M.J. Cytochrome b mutations in Leber hereditary optic neuropathy Biochem Biophys Res Commun 1991 10.1016/0006-291X(91)92088-2 181 1358
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 1358
-
-
Johns, D.R.1
Neufeld, M.J.2
-
4
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns, D.R.; NeufeldMJ, Park; R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochem Biophys Res Commun 1992 10.1016/0006-291X(92)90479-5 187 1551
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551
-
-
Johns, D.R.1
Neufeld, MJ2
-
5
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am.7 Hum Genet
-
Mackey, D.; Howell, N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am.7 Hum Genet 1992 51 1218
-
(1992)
, vol.51
, pp. 1218
-
-
Mackey, D.1
Howell, N.2
-
6
-
-
0027180961
-
Leber's hereditary optic neuropathy. New genetic considerations
-
Newman, N.J. Leber's hereditary optic neuropathy. New genetic considerations Arch Neurol 1993 10.1001/archneur.1993.00540050082021 50 540
-
(1993)
Arch Neurol
, vol.50
, pp. 540
-
-
Newman, N.J.1
-
7
-
-
0023185081
-
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
-
Nikoskelainen, E.K.; Savontaus, M.-L.; Wanne, O.P.; Katila, M.J.; Nummelin, K.U. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees Arch Ophthalmol 1987 10.1001/archopht.1987.01060050083043 105 665
-
(1987)
Arch Ophthalmol
, vol.105
, pp. 665
-
-
Nikoskelainen, E.K.1
Savontaus, M.-L.2
Wanne, O.P.3
Katila, M.J.4
Nummelin, K.U.5
-
8
-
-
0025817353
-
Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign..7
-
Bruyn, G.W.; Vielvoye, G.J.; Went, L.N. Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign..7 Neurol Sci 1991 10.1016/0022-510X(91)90164-3 103 195
-
(1991)
Neurol Sci
, vol.103
, pp. 195
-
-
Bruyn, G.W.1
Vielvoye, G.J.2
Went, L.N.3
-
9
-
-
0000514888
-
Leber's disease with symptoms resembling disseminated sclerosis..7 Neurol
-
Lees, F.; MacDonald, A.-M.E.; Turner, J.W.A. Leber's disease with symptoms resembling disseminated sclerosis..7 Neurol Neurosurg Psychiatry 1964 10.1136/jnnp.27.5.415 27 415
-
(1964)
Neurosurg Psychiatry
, vol.27
, pp. 415
-
-
Lees, F.1
MacDonald, A.-M.E.2
Turner, J.W.A.3
-
10
-
-
0022994049
-
Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case
-
McCluskey, D.A.J.; O'Connor, P.S.; Sheehy, J.T. Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case Clin Neuroophthalmol 1986 6 1 76-8
-
(1986)
Clin Neuroophthalmol
, vol.6
, pp. 1
-
-
McCluskey, D.A.J.1
O'Connor, P.S.2
Sheehy, J.T.3
-
11
-
-
0018130271
-
Charcot-Marie-Tooth disease with Leber optic atrophy
-
McLeod, J.G.; Low, P.A.; Morgan, J.A. Charcot-Marie-Tooth disease with Leber optic atrophy Neurology 1978 10.1212/WNL.28.2.179 28 179
-
(1978)
Neurology
, vol.28
, pp. 179
-
-
McLeod, J.G.1
Low, P.A.2
Morgan, J.A.3
-
12
-
-
0022527309
-
Leber's disease and dystonia: a mitochondrial disease
-
Novotny, E.J.; Singh, G.; Wallace, D.C. Leber's disease and dystonia: a mitochondrial disease Neurology 1986 10.1212/WNL.36.8.1053 36 1053
-
(1986)
Neurology
, vol.36
, pp. 1053
-
-
Novotny, E.J.1
Singh, G.2
Wallace, D.C.3
-
14
-
-
0001786616
-
Leber's hereditary optic atrophy. Some clinical and aetiological considerations
-
Wilson, J. Leber's hereditary optic atrophy. Some clinical and aetiological considerations Brain 1963 10.1093/brain/86.2.347 86 347
-
(1963)
Brain
, vol.86
, pp. 347
-
-
Wilson, J.1
-
15
-
-
85113038676
-
Ophthalmological findings in Leber hereditary optic neuropathy with special reference to the int DNA mutations
-
Nikoskelainen, E.; Huoponen, K.; Juvonen, V.; Lamminen, T.; Nummelin, K.; Savontaus, M.L. Ophthalmological findings in Leber hereditary optic neuropathy with special reference to the int DNA mutations Ophthalmology 1995
-
(1995)
Ophthalmology
-
-
Nikoskelainen, E.1
Huoponen, K.2
Juvonen, V.3
Lamminen, T.4
Nummelin, K.5
Savontaus, M.L.6
-
17
-
-
34447600937
-
Ueber hereditare und congenitalangelegte Sehnervenleiden. Graefes Archives of Clinical and deExWpeeerridmetntCaJl, Ophthalmology 1871; 2
-
Leber, T. Ueber hereditare und congenitalangelegte Sehnervenleiden. Graefes Archives of Clinical and deExWpeeerridmetntCaJl, Ophthalmology 1871; 2 249
-
-
-
Leber, T.1
-
18
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
-
Newman, N.J.; Lott, M.T.; Wallace, D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation Am. Ophthalmol 1991 10.1016/S0002-9394(14)76784-4 111 750
-
(1991)
Am. Ophthalmol
, vol.111
, pp. 750
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
19
-
-
0026495869
-
Leber's hereditary optic ntieounr.oApratchhy. OphCtlhinailcmaoll manifestations of the
-
Johns, D.R.; Smith, K.H.; Miller, N.R. Leber's hereditary optic ntieounr.oApratchhy. OphCtlhinailcmaoll manifestations of the 1992 110 1577
-
(1992)
, vol.110
, pp. 1577
-
-
Johns, D.R.1
Smith, K.H.2
Miller, N.R.3
-
20
-
-
0027207688
-
Central nervous system involvement in Leber's optic neuropathy
-
Paulus, W.; Straube, A.; Bauer, W.; Harding, A.E. Central nervous system involvement in Leber's optic neuropathy 1993 240 251
-
(1993)
, vol.240
, pp. 251
-
-
Paulus, W.1
Straube, A.2
Bauer, W.3
Harding, A.E.4
-
21
-
-
84924839277
-
Relation of hereditary optic atrophy (Leber) nervous to other system. fAamMilAialArdcehgievneesraotfivOephdtihsaelamsoesloogfy central
-
Bereday, M.; Cobb, S. Relation of hereditary optic atrophy (Leber) nervous to other system. fAamMilAialArdcehgievneesraotfivOephdtihsaelamsoesloogfy central 1952 48 669
-
(1952)
, vol.48
, pp. 669
-
-
Bereday, M.1
Cobb, S.2
-
22
-
-
84980061312
-
Beobachtungen bei der Leberschen Krankheit
-
0, Heinonen Beobachtungen bei der Leberschen Krankheit Acta Ophthalmol 1932 10 1 20
-
(1932)
Acta Ophthalmol
, vol.10
, pp. 1
-
-
Heinonen1
-
23
-
-
0025897119
-
Leber hereditary optic neuropathy: involvement of the mitochondrial ND 1 Gene and evidence for an intragenic suppressor mutation
-
Howell, N.; Kubacka, I.; Xu, M.; McCullough, D.A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND 1 Gene and evidence for an intragenic suppressor mutation Am _7 Hum Genet 1991 48 935
-
(1991)
Am _7 Hum Genet
, vol.48
, pp. 935
-
-
Howell, N.1
Kubacka, I.2
Xu, M.3
McCullough, D.A.4
-
24
-
-
0014706751
-
A new manifestation of Leber's disease and a new explanation unusual pattern of for the agency inheritance. Brain responsible for
-
Wallace, D.C. A new manifestation of Leber's disease and a new explanation unusual pattern of for the agency inheritance. Brain responsible for 1970 93 121
-
(1970)
, vol.93
, pp. 121
-
-
Wallace, D.C.1
-
25
-
-
0025989274
-
Clinicopathologic observations in essential tremor: report of six cases
-
Rajput, A.H.; Rozdilsky, B.; Ang, L.; Rajput, A. Clinicopathologic observations in essential tremor: report of six cases Neurology 1991 10.1212/WNL.41.9.1422 41 1422
-
(1991)
Neurology
, vol.41
, pp. 1422
-
-
Rajput, A.H.1
Rozdilsky, B.2
Ang, L.3
Rajput, A.4
-
26
-
-
0019983456
-
Essential tremor in a Finnish population
-
Rautakorpi, I.; Takala, J.; Marttila, R.; Sievers, K.; Rinne, U.K. Essential tremor in a Finnish population Acta Neurol Scand 1982 66 58
-
(1982)
Acta Neurol Scand
, vol.66
, pp. 58
-
-
Rautakorpi, I.1
Takala, J.2
Marttila, R.3
Sievers, K.4
Rinne, U.K.5
-
27
-
-
0002699021
-
A sex-linked heredodegenerative neurological disorder associated with Leber's optic atrophy
-
Bruyn, G.W.; Went, L.N. A sex-linked heredodegenerative neurological disorder associated with Leber's optic atrophy Neurol Sci 1964 10.1016/0022-510X(64)90054-1 1 59
-
(1964)
Neurol Sci
, vol.1
, pp. 59
-
-
Bruyn, G.W.1
Went, L.N.2
-
28
-
-
0022626689
-
Familial dystonia and visual failure with striatal CT lucencies
-
Marsden, C.D.; Lang, A.E.; Quinn, N.P.; McDonald, W.I.; Abdallat, A.; Nimri, S. Familial dystonia and visual failure with striatal CT lucencies _7 Neurol Neurosurg Psychiatry 1986 10.1136/jnnp.49.5.500 49 500
-
(1986)
_7 Neurol Neurosurg Psychiatry
, vol.49
, pp. 500
-
-
Marsden, C.D.1
Lang, A.E.2
Quinn, N.P.3
McDonald, W.I.4
Abdallat, A.5
Nimri, S.6
-
29
-
-
0026571984
-
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings
-
Leuzzi, V.; Bertini, E.; De Negri, A.M.; Gallucci, M.; Garavaglia, B. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings _7 Neurol Neurosurg Psychiatry 1992 10.1136/jnnp.55.1.16 55 16
-
(1992)
_7 Neurol Neurosurg Psychiatry
, vol.55
, pp. 16
-
-
Leuzzi, V.1
Bertini, E.2
De Negri, A.M.3
Gallucci, M.4
Garavaglia, B.5
-
30
-
-
85143024206
-
Three subgroups of patients with Leber hereditary optic neuropathy from
-
Mackey, D.A. Three subgroups of patients with Leber hereditary optic neuropathy from the UK. Eye 1995
-
(1995)
-
-
Mackey, D.A.1
-
31
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic
-
Jun, A.S.; Brown, M.D.; Wallace, D.C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc NatlAcadSci USA 1994 91 6206
-
(1994)
, vol.91
, pp. 6206
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
32
-
-
0024353957
-
Studies on Leber's optic neuropathy III
-
Palan, A.; Stehouwer, A.; Went, L.N. Studies on Leber's optic neuropathy III Doc Ophthalmol 1989 10.1007/BF00155135 71 77
-
(1989)
Doc Ophthalmol
, vol.71
, pp. 77
-
-
Palan, A.1
Stehouwer, A.2
Went, L.N.3
-
33
-
-
0025295949
-
BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement
-
Mondelli, M.; Rossi, A.; Scarpini, C.; Dotti, M.T.; Federico, A. BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement Acta Neurol Scand 1990 81 349
-
(1990)
Acta Neurol Scand
, vol.81
, pp. 349
-
-
Mondelli, M.1
Rossi, A.2
Scarpini, C.3
Dotti, M.T.4
Federico, A.5
-
34
-
-
0024343409
-
Vascular involvement in mitochondrial myopathy
-
Sakuta, R.; Nonaka, I. Vascular involvement in mitochondrial myopathy Ann Neurol 1989 10.1002/ana.410250611 25 594
-
(1989)
Ann Neurol
, vol.25
, pp. 594
-
-
Sakuta, R.1
Nonaka, I.2
-
35
-
-
0023270881
-
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy
-
Ohama, E. 1987 10.1007/BF00688185 5 Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy Acta Neuropathol (Berl) 226
-
(1987)
Acta Neuropathol (Berl)
, vol.5
, pp. 226
-
-
Ohama, E.1
-
36
-
-
0026795527
-
MELAS: an original case and clinical criteria for diagnosis
-
Hirano, M.; Ricci, E.; Koenigsberger, M.R. MELAS: an original case and clinical criteria for diagnosis Neuromuscul Disord 1992 10.1016/0960-8966(92)90045-8 2 125
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 125
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, M.R.3
|