A citation-based method for searching scientific literature

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
W Lissens, L De Meirleir, S Seneca, I Liebaers, G K Brown, R M Brown, M Ito, E Naito, Y Kuroda, D S Kerr, I D Wexler, M S Patel, B H Robinson, A Seyda. Hum Mutat 2000
Times Cited: 138






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List of co-cited articles
557 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Pyruvate dehydrogenase deficiency.
G K Brown, L J Otero, M LeGris, R M Brown. J Med Genet 1994
115
19
19

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Ruth M Brown, Rosemary A Head, Ivan I Boubriak, James V Leonard, Neil H Thomas, Garry K Brown. Hum Genet 2004
33
19
57

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Jessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, Ingrid Tein, Brian H Robinson. Am J Med Genet A 2004
34
19
55

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Rosemary A Head, Ruth M Brown, Zarazuela Zolkipli, Raveen Shahdadpuri, Mary D King, Peter T Clayton, Garry K Brown. Ann Neurol 2005
58
19
32

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
K Chun, N MacKay, R Petrova-Benedict, A Federico, A Fois, D E Cole, E Robertson, B H Robinson. Am J Hum Genet 1995
45
17
37

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
97
17
17

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.
B H Robinson, H MacMillan, R Petrova-Benedict, W G Sherwood. J Pediatr 1987
149
16
16

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
I D Wexler, S G Hemalatha, J McConnell, N R Buist, H H Dahl, S A Berry, S D Cederbaum, M S Patel, D S Kerr. Neurology 1997
155
16
16

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Mary C Maj, Neviana MacKay, Valeriy Levandovskiy, Jane Addis, E Regula Baumgartner, Matthias R Baumgartner, Brian H Robinson, Jessie M Cameron. J Clin Endocrinol Metab 2005
43
16
37

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.
M S Patel, T E Roche. FASEB J 1990
485
14
14

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
C Marsac, C Benelli, I Desguerre, M Diry, F Fouque, L De Meirleir, G Ponsot, S Seneca, F Poggi, J M Saudubray,[...]. Hum Genet 1997
39
14
35

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
Kazuki Okajima, Matthew L Warman, Leah C Byrne, Douglas S Kerr. Mol Genet Metab 2006
24
14
58

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole. Mol Genet Metab 2012
81
14
17

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Yukiko Ogawa, Yasuhiro Kuroda. J Neurol Sci 2002
22
13
59

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
E Quintana, L Gort, C Busquets, A Navarro-Sastre, W Lissens, S Moliner, M Lluch, M A Vilaseca, L De Meirleir, A Ribes,[...]. Clin Genet 2010
29
13
44

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Junko Matsuda, Yukiko Ogawa, Seiko Kitamura, Eiko Takada, Yoshihiro Horii, Yasuhiro Kuroda. Biochim Biophys Acta 2002
31
12
38

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
H H Dahl. Am J Hum Genet 1995
47
12
25

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
R M Brown, H H Dahl, G K Brown. Genomics 1989
144
11
11

Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
M T Johnson, S Mahmood, S L Hyatt, H S Yang, P D Soloway, R W Hanson, M S Patel. Mol Genet Metab 2001
61
11
18

Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Naoko Wada, Toyojiro Matsuishi, Michiko Nonaka, Etsuo Naito, Makoto Yoshino. Brain Dev 2004
29
11
37

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
K Okajima, L G Korotchkina, C Prasad, T Rupar, J A Phillips, C Ficicioglu, J Hertecant, M S Patel, D S Kerr. Mol Genet Metab 2008
24
11
45

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Cheryl K Ridout, Ruth M Brown, John H Walter, Garry K Brown. Hum Genet 2008
14
11
78

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
B H Robinson, N MacKay, R Petrova-Benedict, I Ozalp, T Coskun, P W Stacpoole. J Clin Invest 1990
51
10
19

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.
L De Meirleir, W Lissens, R Denis, J L Wayenberg, A Michotte, J M Brucher, E Vamos, E Gerlo, I Liebaers. Pediatr Neurol 1993
49
10
20

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
L J Otero, R M Brown, G K Brown. Hum Mutat 1998
21
9
42

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.
D S Kerr, S A Berry, M M Lusk, L Ho, M S Patel. Pediatr Res 1988
64
9
14

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.
D S Kerr, L Ho, C M Berlin, K F Lanoue, J Towfighi, C L Hoppel, M M Lusk, C M Gondek, M S Patel. Pediatr Res 1987
71
9
12

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
G Bonne, C Benelli, L De Meirleir, W Lissens, M Chaussain, M Diry, J P Clot, G Ponsot, V Geoffroy, J P Leroux. Pediatr Res 1993
32
9
28

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.
G K Brown, E A Haan, D M Kirby, R D Scholem, J E Wraith, J G Rogers, D M Danks. Eur J Pediatr 1988
95
9
9

First characterization of a large deletion of the PDHA 1 gene.
Michèle Brivet, Marie-Laure Moutard, Mokhtar Zater, Lydia Venet, Claude Chenel, Manuele Mine, A Legrand. Mol Genet Metab 2005
15
9
60

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
R M Brown, R A Head, A A M Morris, J A J Raiman, J H Walter, W P Whitehouse, G K Brown. Dev Med Child Neurol 2006
19
9
47

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Suzanne D DeBrosse, Kazuki Okajima, Shulin Zhang, Ghunwa Nakouzi, Christine L Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S Kerr. Mol Genet Metab 2012
55
9
16

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.
K F Sheu, C W Hu, M F Utter. J Clin Invest 1981
147
8
8

Leigh syndrome: clinical features and biochemical and DNA abnormalities.
S Rahman, R B Blok, H H Dahl, D M Danks, D M Kirby, C W Chow, J Christodoulou, D R Thorburn. Ann Neurol 1996
531
8
8

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
E Naito, M Ito, E Takeda, I Yokota, S Yoshijima, Y Kuroda. Pediatr Res 1994
48
8
16

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.
A Michotte, L De Meirleir, W Lissens, R Denis, J L Wayenberg, I Liebaers, J M Brucher. Acta Neuropathol 1993
22
8
36

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.
T Fujii, M B Garcia Alvarez, K F Sheu, P J Kranz-Eble, D C De Vivo. Pediatr Neurol 1996
22
8
36

Lactic acidaemia.
B H Robinson, W G Sherwood. J Inherit Metab Dis 1984
56
7
12

X chromosome inactivation and the diagnosis of X linked disease in females.
R M Brown, G K Brown. J Med Genet 1993
58
7
12

Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation.
T C Linn, F H Pettit, L J Reed. Proc Natl Acad Sci U S A 1969
671
7
7

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
W Lissens, L De Meirleir, S Seneca, C Benelli, C Marsac, B T Poll-The, P Briones, W Ruitenbeek, O van Diggelen, D Chaigne,[...]. Hum Mutat 1996
33
7
21

A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.
A Seyda, K Chun, S Packman, B H Robinson. J Inherit Metab Dis 2001
10
7
70

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Runu Dey, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac. Ann Neurol 2003
19
7
36

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
J P Blass, J Avigan, B W Uhlendorf. J Clin Invest 1970
154
7
7

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Már Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson, Willy Lissens, Linda De Meirleir, Elisabeth Holme. Eur J Pediatr 2005
11
7
63

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
B Aral, C Benelli, G Ait-Ghezala, M Amessou, F Fouque, C Maunoury, N Créau, P Kamoun, C Marsac. Am J Hum Genet 1997
40
7
17

Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
E Naito, M Ito, I Yokota, T Saijo, S Chen, M Maehara, Y Kuroda. J Neurol Sci 1999
26
7
26

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
J Matsuda, M Ito, E Naito, I Yokota, Y Kuroda. J Inherit Metab Dis 1995
21
7
33

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Peter W Stacpoole, Douglas S Kerr, Carie Barnes, S Terri Bunch, Paul R Carney, Eileen M Fennell, Natalia M Felitsyn, Robin L Gilmore, Melvin Greer, George N Henderson,[...]. Pediatrics 2006
182
7
7

Clinical diversity of pyruvate dehydrogenase deficiency.
J H Cross, A Connelly, D G Gadian, B E Kendall, G K Brown, R M Brown, J V Leonard. Pediatr Neurol 1994
41
7
17


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.

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