-
2
-
-
38149078210
-
Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
-
Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med 2008; 10: 4-12.
-
(2008)
Genet Med
, vol.10
, pp. 4-12
-
-
Schaefer, G.B.1
Mendelsohn, N.J.2
-
3
-
-
79954614882
-
Mitochondrial dysfunction can con-nect the diverse medical symptoms associated with autism spectrum disorders
-
Frye RE, Rossignol DA. Mitochondrial dysfunction can con-nect the diverse medical symptoms associated with autism spectrum disorders. Pediatr Res 2011; 69(5 Pt 2): 41R-47R.
-
(2011)
Pediatr Res
, vol.69
, Issue.5 PART 2
-
-
Frye, R.E.1
Rossignol, D.A.2
-
4
-
-
84857374198
-
Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis
-
Rossignol DA, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 2011.
-
(2011)
Mol Psychiatry
-
-
Rossignol, D.A.1
Frye, R.E.2
-
5
-
-
77953112373
-
Acquired micro-cephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation
-
Condie J, Goldstein J, Wainwright MS. Acquired micro-cephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. J Child Neurol 2010; 25: 633-636.
-
(2010)
J Child Neurol
, vol.25
, pp. 633-636
-
-
Condie, J.1
Goldstein, J.2
Wainwright, M.S.3
-
6
-
-
33745479882
-
Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
-
DOI 10.1128/MCB.01665-05
-
Kriaucionis S, Paterson A, Curtis J, Guy J, Macleod N, Bird A. Gene expression analysis exposes mitochondrial abnormal-ities in a mouse model of Rett syndrome. Mol Cell Biol 2006; 26: 5033-5042. (Pubitemid 43955817)
-
(2006)
Molecular and Cellular Biology
, vol.26
, Issue.13
, pp. 5033-5042
-
-
Kriaucionis, S.1
Paterson, A.2
Curtis, J.3
Guy, J.4
MacLeod, N.5
Bird, A.6
-
7
-
-
0034048044
-
Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation
-
Lys mutation. J Child Neurol 2000; 15: 357-361. (Pubitemid 30418050)
-
(2000)
Journal of Child Neurology
, vol.15
, Issue.6
, pp. 357-361
-
-
Graf, W.D.1
Marin-Garcia, J.2
Gao, H.G.3
Pizzo, S.4
Naviaux, R.K.5
Markusic, D.6
Barshop, B.A.7
Courchesne, E.8
Haas, R.H.9
-
8
-
-
33845444330
-
Mitochondrial disease criteria: Diagnostic applications in children
-
DOI 10.1212/01.wnl.0000244435.27645.54, PII 0000611420061128000022
-
Morava E, van den Heuvel L, Hol F et al., Mitochondrial dis-ease criteria: diagnostic applications in children. Neurology 2006; 67: 1823-1826. (Pubitemid 44900760)
-
(2006)
Neurology
, vol.67
, Issue.10
, pp. 1823-1826
-
-
Morava, E.1
Van Den Heuvel, L.2
Hol, F.3
De Vries, M.C.4
Hogeveen, M.5
Rodenburg, R.J.6
Smeitink, J.A.M.7
-
9
-
-
33749055779
-
Molecular analysis of mito-chondrial DNA point mutations by polymerase chain reaction
-
Wong LJ, Cobb BR, Chen TJ. Molecular analysis of mito-chondrial DNA point mutations by polymerase chain reaction. Methods Mol Biol 2006; 336: 135-143.
-
(2006)
Methods Mol Biol
, vol.336
, pp. 135-143
-
-
Wong, L.J.1
Cobb, B.R.2
Chen, T.J.3
-
10
-
-
34548271691
-
Pathogenic mitochondrial DNA mutations in protein-coding genes
-
Wong LJ. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve 2007; 36: 279-293.
-
(2007)
Muscle Nerve
, vol.36
, pp. 279-293
-
-
Wong, L.J.1
-
11
-
-
84879793260
-
Impact of the mitochondrial genetic background in com-plex III deficiency
-
pii: e12801
-
Gil Borlado MC, Moreno Lastres D, Gonzalez Hoyuela M et al., Impact of the mitochondrial genetic background in com-plex III deficiency. PLoS One 2010; 5. pii: e12801.
-
(2010)
PLoS One
, vol.5
-
-
Gil Borlado, M.C.1
Moreno Lastres, D.2
Gonzalez Hoyuela, M.3
-
12
-
-
0029835998
-
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
-
DOI 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7
-
Merante F, Myint T, Tein I, Benson L, Robinson BH. An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996; 8: 216-222. (Pubitemid 26328005)
-
(1996)
Human Mutation
, vol.8
, Issue.3
, pp. 216-222
-
-
Merante, F.1
Myint, T.2
Tein, I.3
Benson, L.4
Robinson, B.H.5
-
13
-
-
0031829093
-
Characterization of the mitochondrial genome in childhood multiple sclerosis. I. Optic neuritis and LHON mutations
-
Ohlenbusch A, Wilichowski E, Hanefeld F. Characterization of the mitochondrial genome in childhood multiple sclerosis. I. Optic neuritis and LHON mutations. Neuropediatrics 1998; 29: 175-179. (Pubitemid 28396067)
-
(1998)
Neuropediatrics
, vol.29
, Issue.4
, pp. 175-179
-
-
Ohlenbusch, A.1
Wilichowski, E.2
Hanefeld, F.3
-
14
-
-
0032008669
-
Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease
-
Kösel S, Grasbon-Frodl EM, Mautsch U et al., Novel mu-tations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics 1998; 1: 197-204. (Pubitemid 128684241)
-
(1998)
Neurogenetics
, vol.1
, Issue.3
, pp. 197-204
-
-
Kosel, S.1
Grasbon-Frodl, E.M.2
Mautsch, U.3
Egensperger, R.4
Von Eitzen, U.5
Frishman, D.6
Hofmann, S.7
Gerbitz, K.-D.8
Mehraein, P.9
Graeber, M.B.10
-
15
-
-
67449114040
-
Microdeletion 15q13.3: A locus with incomplete penetrance for autism, men-tal retardation, and psychiatric disorders
-
Ben-Shachar S, Lanpher B, German JR et al., Microdeletion 15q13.3: a locus with incomplete penetrance for autism, men-tal retardation, and psychiatric disorders. J Med Genet 2009; 46: 382-388.
-
(2009)
J Med Genet
, vol.46
, pp. 382-388
-
-
Ben-Shachar, S.1
Lanpher, B.2
German, J.R.3
-
16
-
-
0032732526
-
Recent developments in the investigation of inherited metabolic disorders using cultured human cells
-
DOI 10.1006/mgme.1999.2911
-
Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Mol Genet Metab 1999; 68: 243-257. (Pubitemid 29501097)
-
(1999)
Molecular Genetics and Metabolism
, vol.68
, Issue.2
, pp. 243-257
-
-
Roe, C.R.1
Roe, D.S.2
-
18
-
-
0042164621
-
Basal levels of metabolic activity are elevated in Genetic Absence Epilepsy Rats from Strasbourg (GAERS): Measurement of regional activity of cytochrome oxidase and lactate dehydrogenase by histochemistry
-
DOI 10.1016/S0014-4886(03)00052-9
-
Dufour F, Koning E, Nehlig A. Basal levels of metabolic ac-tivity are elevated in Genetic Absence Epilepsy Rats from Strasbourg (GAERS): measurement of regional activity of cy-tochrome oxidase and lactate dehydrogenase by histochem-istry. Exp Neurol 2003; 182: 346-352. (Pubitemid 36937087)
-
(2003)
Experimental Neurology
, vol.182
, Issue.2
, pp. 346-352
-
-
Dufour, F.1
Koning, E.2
Nehlig, A.3
-
19
-
-
21844456008
-
Changes in cytochrome oxidase in the piriform cortex after status epilepticus in adult rats
-
Otáhal J, Suchomelová L, Druga R, Kubová H. Changes in cy-tochrome oxidase in the piriform cortex after status epilepticus in adult rats. Epilepsia 2005; 46 Suppl 5: 89-93. (Pubitemid 40962127)
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 5
, pp. 89-93
-
-
Otahal, J.1
Suchomelova, L.2
Druga, R.3
Kubova, H.4
-
20
-
-
33646675840
-
T. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis
-
Ueki I, Koga Y, Povalko N et al., T. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis. Mitochondrion 2006; 6: 29-36.
-
(2006)
Mitochondrion
, vol.6
, pp. 29-36
-
-
Ueki, I.1
Koga, Y.2
Povalko, N.3
-
21
-
-
33745140880
-
Ser(UCN) in a child with hearing loss and myoclonus epilepsy
-
DOI 10.2310/7010.2006.00047
-
Ramelli GP, Gallati S, Weis J, Krähenbühl S, Burgunder JM. Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. J Child Neurol 2006; 21: 253-255. (Pubitemid 43891155)
-
(2006)
Journal of Child Neurology
, vol.21
, Issue.3
, pp. 253-255
-
-
Ramelli, G.P.1
Gallati, S.2
Weis, J.3
Krahenbuhl, S.4
Burgunder, J.-M.5
-
22
-
-
67349196844
-
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: Clinical, biochemical and pathological study
-
Virgilio R, Ronchi D, Bordoni A et al., Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci 2009; 281: 85-92.
-
(2009)
J Neurol Sci
, vol.281
, pp. 85-92
-
-
Virgilio, R.1
Ronchi, D.2
Bordoni, A.3
-
23
-
-
77957983405
-
5q14.3 deletion manifesting as mitochondrial disease and autism: Case report
-
Ezugha H, Goldenthal M, Valencia I, Anderson CE, Legido A, Marks H. 5q14.3 deletion manifesting as mitochondrial disease and autism: case report. J Child Neurol 2010; 25: 1232-1235.
-
(2010)
J Child Neurol
, vol.25
, pp. 1232-1235
-
-
Ezugha, H.1
Goldenthal, M.2
Valencia, I.3
Anderson, C.E.4
Legido, A.5
Marks, H.6
-
24
-
-
76649127089
-
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene
-
Zsurka G, Hampel KG, Nelson I et al., Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. Neurology 2010; 74: 507-512.
-
(2010)
Neurology
, vol.74
, pp. 507-512
-
-
Zsurka, G.1
Hampel, K.G.2
Nelson, I.3
-
25
-
-
65649149431
-
A novel mitochon-drial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis
-
Tam EW, Feigenbaum A, Addis JB et al., A novel mitochon-drial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. Neuropediatrics 2008; 39: 328-334.
-
(2008)
Neuropediatrics
, vol.39
, pp. 328-334
-
-
Tam, E.W.1
Feigenbaum, A.2
Addis, J.B.3
-
26
-
-
66549118688
-
Mitochondrial changes within axons in multiple sclerosis
-
Mahad DJ, Ziabreva I, Campbell G et al., Mitochondrial changes within axons in multiple sclerosis. Brain 2009; 132(Pt 5): 1161-1174.
-
(2009)
Brain
, vol.132
, Issue.PART 5
, pp. 1161-1174
-
-
Mahad, D.J.1
Ziabreva, I.2
Campbell, G.3
-
27
-
-
0034662806
-
Oxidative damage to mi-tochondrial DNA and activity of mitochondrial enzymes in chronic active lesions of multiple sclerosis
-
Lu F, Selak M, O'Connor J et al., Oxidative damage to mi-tochondrial DNA and activity of mitochondrial enzymes in chronic active lesions of multiple sclerosis. J Neurol Sci 2000; 177: 95-103.
-
(2000)
J Neurol Sci
, vol.177
, pp. 95-103
-
-
Lu, F.1
Selak, M.2
O'Connor, J.3
-
28
-
-
0013292906
-
The role of nitric oxide in multiple sclerosis
-
DOI 10.1016/S1474-4422(02)00102-3
-
Smith KJ, Lassmann H. The role of nitric oxide in multiple sclerosis. Lancet Neurol 2002; 1: 232-241. (Pubitemid 37159185)
-
(2002)
Lancet Neurology
, vol.1
, Issue.4
, pp. 232-241
-
-
Smith, K.J.1
Lassmann, H.2
-
29
-
-
0036569712
-
Endotoxin-stimulated nitric oxide production inhibits expression of cytochrome C oxidase in ANA-1 murine macrophages
-
Wei J, Guo H, Kuo PC. Endotoxin-stimulated nitric oxide production inhibits expression of cytochrome c oxidase in ANA-1 murine macrophages. J Immunol 2002; 168: 4721-4727. (Pubitemid 34441380)
-
(2002)
Journal of Immunology
, vol.168
, Issue.9
, pp. 4721-4727
-
-
Wei, J.1
Guo, H.2
Kuo, P.C.3
-
30
-
-
77956184652
-
Adaptive and innate immune responses in autism: Rationale for therapeutic use of intra-venous immunoglobulin
-
Gupta S, Samra D, Agrawal S. Adaptive and Innate Immune Responses in Autism: Rationale for Therapeutic Use of Intra-venous Immunoglobulin. J Clin Immunol 2010.
-
(2010)
J Clin Immunol
-
-
Gupta, S.1
Samra, D.2
Agrawal, S.3
-
31
-
-
30644461549
-
Immunity, neuroglia and neuroinflammation in autism
-
DOI 10.1080/02646830500381930, PII H5XQ5V0MVN1G6411
-
Pardo CA, Vargas DL, Zimmerman AW. Immunity, neuroglia and neuroinflammation in autism. Int Rev Psychiatry 2005; 17: 485-495. (Pubitemid 43086675)
-
(2005)
International Review of Psychiatry
, vol.17
, Issue.6
, pp. 485-495
-
-
Pardo, C.A.1
Vargas, D.L.2
Zimmerman, A.W.3
-
32
-
-
11144230769
-
Neuroglial activation and neuroinflammation in the brain of patients with autism
-
DOI 10.1002/ana.20315
-
Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol 2005; 57: 67-81. (Pubitemid 40053317)
-
(2005)
Annals of Neurology
, vol.57
, Issue.1
, pp. 67-81
-
-
Vargas, D.L.1
Nascimbene, C.2
Krishnan, C.3
Zimmerman, A.W.4
Pardo, C.A.5
-
33
-
-
1042289313
-
High nitric oxide production in autistic disorder: A possible role for interferon-γ
-
DOI 10.1016/j.biopsych.2003.09.001
-
Sweeten TL, Posey DJ, Shankar S, McDougle CJ. High ni-tric oxide production in autistic disorder: a possible role for interferon-gamma. Biol Psychiatry 2004; 55: 434-437. (Pubitemid 38199995)
-
(2004)
Biological Psychiatry
, vol.55
, Issue.4
, pp. 434-437
-
-
Sweeten, T.L.1
Posey, D.J.2
Shankar, S.3
McDougle, C.J.4
-
34
-
-
12444304256
-
Changes in nitric oxide levels and antioxidant enzyme activities may have a role in the pathophysiological mechanisms involved in autism
-
DOI 10.1016/S0009-8981(03)00119-0
-
Söüt S, Zoroǧlu SS, Ozyurt H et al., Changes in nitric oxide levels and antioxidant enzyme activities may have a role in the pathophysiological mechanisms involved in autism. Clin Chim Acta 2003; 331: 111-117. (Pubitemid 36412032)
-
(2003)
Clinica Chimica Acta
, vol.331
, Issue.1-2
, pp. 111-117
-
-
Sogut, S.1
Zoroglu, S.S.2
Ozyurt, H.3
Yilmaz, H.R.4
Ozugurlu, F.5
Sivasli, E.6
Yetkin, O.7
Yanik, M.8
Tutkun, H.9
Savas, H.A.10
Tarakcioglu, M.11
Akyol, O.12
-
35
-
-
0037369373
-
Pathophysiological role of nitric oxide and adrenomedullin in autism
-
DOI 10.1002/cbf.989
-
Zoroǧlu SS, Yürekli M, Meram I et al., Pathophysiological role of nitric oxide and adrenomedullin in autism. Cell Biochem Funct 2003; 21: 55-60. (Pubitemid 36227827)
-
(2003)
Cell Biochemistry and Function
, vol.21
, Issue.1
, pp. 55-60
-
-
Zoroglu, S.S.1
Yurekli, M.2
Meram, I.3
Sogut, S.4
Tutkun, H.5
Yetkin, O.6
Sivasli, E.7
Savas, H.A.8
Yanik, M.9
Herken, H.10
Akyol, O.11
-
36
-
-
0242485408
-
A hypothalamic digoxin-mediated mod-el for autism
-
Kurup RK, Kurup PA. A hypothalamic digoxin-mediated mod-el for autism. Int J Neurosci 2003; 113: 1537-1559.
-
(2003)
Int J Neurosci
, vol.113
, pp. 1537-1559
-
-
Kurup, R.K.1
Kurup, P.A.2
-
37
-
-
84857360012
-
Mitochondrial abnormalities in lymphoblasts from autism: P1-01-03
-
273 Abstract
-
Chauhan A, Essa MM, Muthaiyah B, Brown WT, Chauhan V. Mitochondrial abnormalities in lymphoblasts from autism: P1-01-03. Journal of Neurochemistry 2009; 109 (Suppl. 1): 273 Abstract.
-
(2009)
Journal of Neurochemistry
, vol.109
, Issue.SUPPL. 1
-
-
Chauhan, A.1
Essa, M.M.2
Muthaiyah, B.3
Brown, W.T.4
Chauhan, V.5
-
38
-
-
68849131751
-
Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism
-
James SJ, Rose S, Melnyk S et al., Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J 2009; 23: 2374-2383.
-
(2009)
FASEB J
, vol.23
, pp. 2374-2383
-
-
James, S.J.1
Rose, S.2
Melnyk, S.3
-
39
-
-
0036990821
-
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: A novel neurometabolic condition responding to folinic acid substitution
-
DOI 10.1055/s-2002-37082
-
Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition re-sponding to folinic acid substitution. Neuropediatrics 2002; 33: 301-308. (Pubitemid 36222142)
-
(2002)
Neuropediatrics
, vol.33
, Issue.6
, pp. 301-308
-
-
Ramaekers, V.T.1
Hausler, M.2
Opladen, T.3
Heimann, G.4
Blau, N.5
-
40
-
-
20144366421
-
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
-
Moretti P, Sahoo T, Hyland K et al., Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 2005; 64: 1088-1090. (Pubitemid 40388474)
-
(2005)
Neurology
, vol.64
, Issue.6
, pp. 1088-1090
-
-
Moretti, P.1
Sahoo, T.2
Hyland, K.3
Bottiglieri, T.4
Peters, S.5
Del Gaudio, D.6
Roa, B.7
Curry, S.8
Zhu, H.9
Finnell, R.H.10
Neul, J.L.11
Ramaekers, V.T.12
Blau, N.13
Bacino, C.A.14
Miller, G.15
Scaglia, F.16
-
41
-
-
44349142821
-
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits
-
DOI 10.1055/s-2008-1065354
-
Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV. Folate receptor autoimmunity and cerebral folate defi-ciency in low-functioning autism with neurological deficits. Neuropediatrics 2007; 38: 276-281. (Pubitemid 351737986)
-
(2007)
Neuropediatrics
, vol.38
, Issue.6
, pp. 276-281
-
-
Ramaekers, V.T.1
Blau, N.2
Sequeira, J.M.3
Nassogne, M.-C.4
Quadros, E.V.5
-
42
-
-
42249111723
-
Mitochondrial diseases associated with cerebral folate deficiency
-
DOI 10.1212/01.wnl.0000309223.98616.e4, PII 0000611420080415000012
-
Garcia-Cazorla A, Quadros EV, Nascimento A et al., Mito-chondrial diseases associated with cerebral folate deficiency. Neurology 2008; 70: 1360-1362. (Pubitemid 351550342)
-
(2008)
Neurology
, vol.70
, Issue.16
, pp. 1360-1362
-
-
Garcia-Cazorla, A.1
Quadros, E.V.2
Nascimento, A.3
Garcia-Silva, M.T.4
Briones, P.5
Montoya, J.6
Ormazabal, A.7
Artuch, R.8
Sequeira, J.M.9
Blau, N.10
Arenas, J.11
Pineda, M.12
Ramaekers, V.T.13
-
43
-
-
10744222971
-
Reduced folate transport to the CNS in female Rett patients
-
Ramaekers VT, Hansen SI, Holm J et al., Reduced folate transport to the CNS in female Rett patients. Neurology 2003; 61: 506-515. (Pubitemid 37025368)
-
(2003)
Neurology
, vol.61
, Issue.4
, pp. 506-515
-
-
Ramaekers, V.T.1
Hansen, S.I.2
Holm, J.3
Opladen, T.4
Senderek, J.5
Hausler, M.6
Heimann, G.7
Fowler, B.8
Maiwald, R.9
Blau, N.10
-
44
-
-
0027949134
-
Elevated CSF lactate in the Rett syndrome: Cause or consequence?
-
DOI 10.1016/0387-7604(94)90129-5
-
Lappalainen R, Riikonen RS. Elevated CSF lactate in the Rett syndrome: cause or consequence? Brain Dev 1994; 16: 399-401. (Pubitemid 24349230)
-
(1994)
Brain and Development
, vol.16
, Issue.5
, pp. 399-401
-
-
Lappalainen, R.1
Riikonen, R.S.2
-
45
-
-
0028652295
-
Neuropathology of Rett syndrome: Case report with neu-ronal and mitochondrial abnormalities in the brain
-
Cornford ME, Philippart M, Jacobs B, Scheibel AB, Vinters HV. Neuropathology of Rett syndrome: case report with neu-ronal and mitochondrial abnormalities in the brain. J Child Neurol 1994; 9: 424-431.
-
(1994)
J Child Neurol
, vol.9
, pp. 424-431
-
-
Cornford, M.E.1
Philippart, M.2
Jacobs, B.3
Scheibel, A.B.4
Vinters, H.V.5
-
46
-
-
0031444919
-
Mutational analysis of mitochondrial DNA of children with Rett syndrome
-
DOI 10.1016/S0887-8994(97)00151-3, PII S0887899497001513
-
Tang J, Qi Y, Bao XH, Wu XR. Mutational analysis of mito-chondrial DNA of children with Rett syndrome. Pediatr Neurol 1997; 17: 327-330. (Pubitemid 28018863)
-
(1997)
Pediatric Neurology
, vol.17
, Issue.4
, pp. 327-330
-
-
Tang, J.1
Qi, Y.2
Bao, X.-H.3
Wu, X.-R.4
-
47
-
-
0033112848
-
Studies on mitochondrial pathogenesis of Rett syndrome: Ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
-
Cardaioli E, Dotti MT, Hayek G, Zappella M, Federico A. Studies on mitochondrial pathogenesis of Rett syndrome: ul-trastructural data from skin and muscle biopsies and mutation-al analysis at mtDNA nucleotides 10463 and 2835 J Submi-crosc Cytol Pathol 1999; 31: 301-304. (Pubitemid 129553505)
-
(1999)
Journal of Submicroscopic Cytology and Pathology
, vol.31
, Issue.2
, pp. 301-304
-
-
Cardaioli, E.1
Dotti, M.T.2
Hayek, G.3
Zappella, M.4
Federico, A.5
-
48
-
-
0035838248
-
Role of mitochondrial lesion in patho-genesis of sporadic Rett syndrome
-
Jun 10 Chinese
-
Meng H, Pan H, Qi Y. Role of mitochondrial lesion in patho-genesis of sporadic Rett syndrome. Zhonghua Yi Xue Za Zhi 2001 Jun 10; 81: 662-664 (in Chinese).
-
(2001)
Zhonghua Yi Xue Za Zhi
, vol.81
, pp. 662-664
-
-
Meng, H.1
Pan, H.2
Qi, Y.3
-
49
-
-
49749123017
-
Mitochondrial control of epigenetics
-
Naviaux RK. Mitochondrial control of epigenetics. Cancer Biol Ther 2008; 7: 1191-1193.
-
(2008)
Cancer Biol Ther
, vol.7
, pp. 1191-1193
-
-
Naviaux, R.K.1
|