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Times Cited: 28
Times Cited: 28
Times Cited
Times Co-cited
Similarity
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
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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
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
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Paroxysmal dyskinesias: clinical features and classification.
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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
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Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein. Brain 2015
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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
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ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.
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Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
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Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
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Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
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Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
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Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
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Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
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Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
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Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.
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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
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Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
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Unravelling of the paroxysmal dyskinesias.
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Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
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Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
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Ketonic diet in the management of pyruvate dehydrogenase deficiency.
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
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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.