-
2
-
-
0035154001
-
Phenotype variability in 130 adult patients with respiratory chain disorders
-
Finsterer J, Jarius C, Eichberger H. Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis 2001;24:560-76.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 560-576
-
-
Finsterer, J.1
Jarius, C.2
Eichberger, H.3
-
3
-
-
33748377123
-
Central nervous system manifestations of mitochondrial disorders
-
Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006;114:217-38.
-
(2006)
Acta Neurol Scand
, vol.114
, pp. 217-238
-
-
Finsterer, J.1
-
4
-
-
84861957451
-
Psychosis as a manifestation of cerebral involvement in mitochondrial disorders
-
Anninos P, Rossi M, Pham TD, Falugi C, Bussing A, Koukkou M, eds. Proceedings of the International Conferences on Medical Pharmacology/Medical Histology and Embryology/Psychiatry and Psychotherapy/International Conference on Oncology, Cambridge, UK: University of Cambridge, February
-
Finsterer J. Psychosis as a manifestation of cerebral involvement in mitochondrial disorders. In: Anninos P, Rossi M, Pham TD, Falugi C, Bussing A, Koukkou M, eds. Recent advances in clinical medicine. Proceedings of the International Conferences on Medical Pharmacology/Medical Histology and Embryology/Psychiatry and Psychotherapy/International Conference on Oncology, Cambridge, UK: University of Cambridge, February, Recent Adv Clin Med 2010;90-6.
-
(2010)
Recent advances in clinical medicine Recent Adv Clin Med
, pp. 90-96
-
-
Finsterer, J.1
-
5
-
-
70349652130
-
Brain anomalies in maternally inherited diabetes and deafness syndrome
-
Fromont I, Nicoli F, Valéro R et al.Brain anomalies in maternally inherited diabetes and deafness syndrome. J Neurol 2009;256:1696-704.
-
(2009)
J Neurol
, vol.256
, pp. 1696-1704
-
-
Fromont, I.1
Nicoli, F.2
Valéro, R.3
-
6
-
-
77955576599
-
MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review
-
Kaufman KR, Zuber N, Rueda-Lara MA, Tobia A. MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review. Epilepsy Behav 2010;18:494-7.
-
(2010)
Epilepsy Behav
, vol.18
, pp. 494-497
-
-
Kaufman, K.R.1
Zuber, N.2
Rueda-Lara, M.A.3
Tobia, A.4
-
7
-
-
37849038344
-
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;117:128-32.
-
(2008)
Acta Neurol Scand
, vol.117
, pp. 128-132
-
-
Lindberg, C.1
Moslemi, A.R.2
Oldfors, A.3
-
8
-
-
78650515513
-
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
-
Salsano E, Giovagnoli AR, Morandi L et al.Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci 2011;300:165-8.
-
(2011)
J Neurol Sci
, vol.300
, pp. 165-168
-
-
Salsano, E.1
Giovagnoli, A.R.2
Morandi, L.3
-
9
-
-
0036837742
-
MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke
-
Sartor H, Loose R, Tucha O, Klein HE, Lange KW. MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke. Acta Neurol Scand 2002;106:309-13.
-
(2002)
Acta Neurol Scand
, vol.106
, pp. 309-313
-
-
Sartor, H.1
Loose, R.2
Tucha, O.3
Klein, H.E.4
Lange, K.W.5
-
11
-
-
0041471388
-
MELAS: clinical phenotype and morphological brain abnormalities
-
Sparaco M, Simonati A, Cavallaro T et al.MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol 2003;106:202-12.
-
(2003)
Acta Neuropathol
, vol.106
, pp. 202-212
-
-
Sparaco, M.1
Simonati, A.2
Cavallaro, T.3
-
12
-
-
19244387448
-
Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome
-
Stratilová L, Zeman J, Houst'ková H et al.Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome. Cas Lek Cesk 1999;138:401-5.
-
(1999)
Cas Lek Cesk
, vol.138
, pp. 401-405
-
-
Stratilová, L.1
Zeman, J.2
Houst'ková, H.3
-
13
-
-
0032692609
-
Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study
-
Turconi AC, Benti R, Castelli E et al.Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study. J Neurol Sci 1999;170:57-63.
-
(1999)
J Neurol Sci
, vol.170
, pp. 57-63
-
-
Turconi, A.C.1
Benti, R.2
Castelli, E.3
-
14
-
-
0242584408
-
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Bosbach S, Kornblum C, Schröder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain 2003;126:1231-40.
-
(2003)
Brain
, vol.126
, pp. 1231-1240
-
-
Bosbach, S.1
Kornblum, C.2
Schröder, R.3
Wagner, M.4
-
15
-
-
0028936818
-
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
-
Mäkelä-Bengs P, Suomalainen A, Majander A et al.Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 1995;37:634-9.
-
(1995)
Pediatr Res
, vol.37
, pp. 634-639
-
-
Mäkelä-Bengs, P.1
Suomalainen, A.2
Majander, A.3
-
16
-
-
74849102571
-
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNAtRNA(Leu(CUN)) gene
-
Coku J, Shanske S, Mehrazin M et al.Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNAtRNA(Leu(CUN)) gene. J Neurol Sci 2010;290:166-8.
-
(2010)
J Neurol Sci
, vol.290
, pp. 166-168
-
-
Coku, J.1
Shanske, S.2
Mehrazin, M.3
-
17
-
-
0037461319
-
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
-
Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neurology 2003;60:1357-9.
-
(2003)
Neurology
, vol.60
, pp. 1357-1359
-
-
Deschauer, M.1
Bamberg, C.2
Claus, D.3
Zierz, S.4
Turnbull, D.M.5
Taylor, R.W.6
-
18
-
-
0034048044
-
Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation
-
Graf WD, Marin-Garcia J, Gao HG et al.Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol 2000;15:357-61.
-
(2000)
J Child Neurol
, vol.15
, pp. 357-361
-
-
Graf, W.D.1
Marin-Garcia, J.2
Gao, H.G.3
-
19
-
-
0035960570
-
A mutation in mttRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract
-
Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R. A mutation in mttRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. Neurology 2001;57:1930-1.
-
(2001)
Neurology
, vol.57
, pp. 1930-1931
-
-
Jaksch, M.1
Lochmuller, H.2
Schmitt, F.3
Volpel, B.4
Obermaier-Kusser, B.5
Horvath, R.6
-
20
-
-
22144470443
-
A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain
-
Raspall-Chaure M, Solano A, Vázquez E et al.A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain. Rev Neurol 2004;39:1129-32.
-
(2004)
Rev Neurol
, vol.39
, pp. 1129-1132
-
-
Raspall-Chaure, M.1
Solano, A.2
Vázquez, E.3
-
21
-
-
0034955881
-
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
-
Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 2001;50:104-7.
-
(2001)
Ann Neurol
, vol.50
, pp. 104-107
-
-
Taylor, R.W.1
Singh-Kler, R.2
Hayes, C.M.3
Smith, P.E.4
Turnbull, D.M.5
-
22
-
-
34247126028
-
Cognitive dysfunction and hypogonadotrophichypogonadism in a Brazilian patient with mitochondrial neurogastrointestinalencephalomyopathy and a novel ECGF1 mutation
-
Carod-Artal FJ, Herrero MD, Lara MC et al.Cognitive dysfunction and hypogonadotrophichypogonadism in a Brazilian patient with mitochondrial neurogastrointestinalencephalomyopathy and a novel ECGF1 mutation. Eur J Neurol 2007;14:581-5.
-
(2007)
Eur J Neurol
, vol.14
, pp. 581-585
-
-
Carod-Artal, F.J.1
Herrero, M.D.2
Lara, M.C.3
-
23
-
-
78650210763
-
Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene
-
Lin J, ChiconelliFaria E, Da Rocha AJ et al.Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J Child Neurol 2010;25:1425-8.
-
(2010)
J Child Neurol
, vol.25
, pp. 1425-1428
-
-
Lin, J.1
ChiconelliFaria, E.2
Da Rocha, A.J.3
-
24
-
-
34047109743
-
Mitochondrial aspartyl-tRNAsynthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper GC, van der Klok T, van Andel RJ et al.Mitochondrial aspartyl-tRNAsynthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-9.
-
(2007)
Nat Genet
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
van der Klok, T.2
van Andel, R.J.3
-
25
-
-
70249099594
-
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy
-
Gramstad A, Bindoff LA, Lillebø A, Tzoulis C, Engelsen BA. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy Behav 2009;16:172-4.
-
(2009)
Epilepsy Behav
, vol.16
, pp. 172-174
-
-
Gramstad, A.1
Bindoff, L.A.2
Lillebø, A.3
Tzoulis, C.4
Engelsen, B.A.5
-
26
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen AH, Heiskanen S, Juvonen V et al.Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005;77:430-41.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
-
27
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G, Luoma P, Rantamäki M et al.POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-7.
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamäki, M.3
-
28
-
-
66849097994
-
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
-
Van Hove JL, Cunningham V, Rice C et al.Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 2009;149A:861-7.
-
(2009)
Am J Med Genet A
, vol.149
, pp. 861-867
-
-
Van Hove, J.L.1
Cunningham, V.2
Rice, C.3
-
30
-
-
10744227058
-
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
-
Grafakou O, Oexle K, van den Heuvel L et al.Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr 2003;162:714-8.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 714-718
-
-
Grafakou, O.1
Oexle, K.2
van den Heuvel, L.3
-
31
-
-
61549117097
-
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies
-
Nickl-Jockschat T, Kunert HJ, Herpertz-Dahlmann B, Grözinger M. Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. Neurocase 2008;15:47-52.
-
(2008)
Neurocase
, vol.15
, pp. 47-52
-
-
Nickl-Jockschat, T.1
Kunert, H.J.2
Herpertz-Dahlmann, B.3
Grözinger, M.4
-
32
-
-
78049377004
-
Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomericmicrodeletions
-
Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomericmicrodeletions. Am J Med Genet C Semin Med Genet 2010;154C:417-26.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154
, pp. 417-426
-
-
Fisch, G.S.1
Grossfeld, P.2
Falk, R.3
Battaglia, A.4
Youngblom, J.5
Simensen, R.6
-
33
-
-
77957725144
-
Clinical and neuropathological findings in patients with TACO1 mutations
-
Seeger J, Schrank B, Pyle A et al.Clinical and neuropathological findings in patients with TACO1 mutations. Neuromuscul Disord 2010;20:720-4.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 720-724
-
-
Seeger, J.1
Schrank, B.2
Pyle, A.3
-
34
-
-
33746427026
-
Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus
-
Pérez López-Fraile MI, Barrena R, Montoya J, Marta E. Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus. Neurologia 2006;21:327-32.
-
(2006)
Neurologia
, vol.21
, pp. 327-332
-
-
Pérez López-Fraile, M.I.1
Barrena, R.2
Montoya, J.3
Marta, E.4
-
35
-
-
77949878549
-
Drugs interfering with mitochondrial disorders
-
Finsterer J, Segall L. Drugs interfering with mitochondrial disorders. Drug Chem Toxicol 2010;33:138-51.
-
(2010)
Drug Chem Toxicol
, vol.33
, pp. 138-151
-
-
Finsterer, J.1
Segall, L.2
-
37
-
-
79955823060
-
Chronic anemia as a manifestation of MELAS syndrome
-
Finsterer J. Chronic anemia as a manifestation of MELAS syndrome. Rev Invest Clin 2011;63:100-3.
-
(2011)
Rev Invest Clin
, vol.63
, pp. 100-103
-
-
Finsterer, J.1
-
38
-
-
11144355448
-
Cerebral lactic acidosis correlates with neurological impairment in MELAS
-
Kaufmann P, Shungu DC, Sano MC et al.Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;62:1297-302.
-
(2004)
Neurology
, vol.62
, pp. 1297-1302
-
-
Kaufmann, P.1
Shungu, D.C.2
Sano, M.C.3
-
39
-
-
54949142139
-
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
-
Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008;1142:133-58.
-
(2008)
Ann N Y Acad Sci
, vol.1142
, pp. 133-158
-
-
Sproule, D.M.1
Kaufmann, P.2
-
40
-
-
81155134771
-
Mutism and acute behavioral disorders revealing MELAS syndrome
-
Coomans H, Barroso B, Bertandeau E et al.Mutism and acute behavioral disorders revealing MELAS syndrome. Rev Neurol (Paris) 2011;167:847-51.
-
(2011)
Rev Neurol (Paris)
, vol.167
, pp. 847-851
-
-
Coomans, H.1
Barroso, B.2
Bertandeau, E.3
-
41
-
-
79953741381
-
MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients
-
Lorenzoni PJ, Scola RH, Kay CS, Arndt RC, Silvado CE, Werneck LC. MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion 2011;11:528-32.
-
(2011)
Mitochondrion
, vol.11
, pp. 528-532
-
-
Lorenzoni, P.J.1
Scola, R.H.2
Kay, C.S.3
Arndt, R.C.4
Silvado, C.E.5
Werneck, L.C.6
-
42
-
-
79956075131
-
Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000)
-
Mayer WJ, Remy M, Rudolph G. Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000). Ophthalmologe 2011;108:459-62.
-
(2011)
Ophthalmologe
, vol.108
, pp. 459-462
-
-
Mayer, W.J.1
Remy, M.2
Rudolph, G.3
-
43
-
-
79953306468
-
Heterogeneous patterns of tissue injury in NARP syndrome
-
Gelfand JM, Duncan JL, Racine CA et al.Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol 2011;258:440-8.
-
(2011)
J Neurol
, vol.258
, pp. 440-448
-
-
Gelfand, J.M.1
Duncan, J.L.2
Racine, C.A.3
-
44
-
-
0035135552
-
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA
-
Lien LM, Lee HC, Wang KL, Chiu JC, Chiu HC, Wei YH. Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. Acta Neurol Scand 2001;103:159-65.
-
(2001)
Acta Neurol Scand
, vol.103
, pp. 159-165
-
-
Lien, L.M.1
Lee, H.C.2
Wang, K.L.3
Chiu, J.C.4
Chiu, H.C.5
Wei, Y.H.6
-
45
-
-
33847639864
-
Mitochondrial neurogastrointestinalencephalomyopathy in three siblings: clinical, genetic and neuroradiological features
-
Schüpbach WM, Vadday KM, Schaller A et al.Mitochondrial neurogastrointestinalencephalomyopathy in three siblings: clinical, genetic and neuroradiological features. J Neurol 2007;254:146-53.
-
(2007)
J Neurol
, vol.254
, pp. 146-153
-
-
Schüpbach, W.M.1
Vadday, K.M.2
Schaller, A.3
-
47
-
-
0028935319
-
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
-
Tranebjaerg L, Schwartz C, Eriksen H et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995;32:257-63.
-
(1995)
J Med Genet
, vol.32
, pp. 257-263
-
-
Tranebjaerg, L.1
Schwartz, C.2
Eriksen, H.3
-
48
-
-
0042767609
-
Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene
-
Binder J, Hofmann S, Kreisel S et al. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain 2003;126:1814-20.
-
(2003)
Brain
, vol.126
, pp. 1814-1820
-
-
Binder, J.1
Hofmann, S.2
Kreisel, S.3
-
49
-
-
58149400349
-
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
-
Del Bo R, Moggio M, Rango M et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 2008;71:1959-66.
-
(2008)
Neurology
, vol.71
, pp. 1959-1966
-
-
Del Bo, R.1
Moggio, M.2
Rango, M.3
-
50
-
-
0022721769
-
Leigh disease in an adult. A case with psychiatric symptoms
-
Bourgeois M, Duret A, Vital C, Assens F, Mazerat P. Leigh disease in an adult. A case with psychiatric symptoms. Ann Med Psychol (Paris) 1986;144:485-94.
-
(1986)
Ann Med Psychol (Paris)
, vol.144
, pp. 485-494
-
-
Bourgeois, M.1
Duret, A.2
Vital, C.3
Assens, F.4
Mazerat, P.5
-
51
-
-
84855573842
-
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene
-
Koga Y, Povalko N, Katayama K et al. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene. Brain Dev 2012;34:87-91.
-
(2012)
Brain Dev
, vol.34
, pp. 87-91
-
-
Koga, Y.1
Povalko, N.2
Katayama, K.3
|