Published in Mol Genet Metab on February 10, 2010
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Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy. J Child Neurol (2012) 0.78
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet (2007) 3.55
Control of pancreatic β cell regeneration by glucose metabolism. Cell Metab (2011) 3.35
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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol (2004) 2.09
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics (2014) 2.08
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet (2005) 2.06
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet (2006) 1.97
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet (2008) 1.71
Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet (2009) 1.61
Developmental coordination disorder in children with attention-deficit-hyperactivity disorder and physical therapy intervention. Dev Med Child Neurol (2007) 1.60
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood (2013) 1.55
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? Eur J Paediatr Neurol (2007) 1.52
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet (2008) 1.48
Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol (2011) 1.45
A benign congenital myopathy in an inbred Samaritan family. Eur J Paediatr Neurol (2006) 1.41
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. J Child Neurol (2012) 1.39
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Horm Res (2006) 1.39
Infant botulism in Israel: knowledge enables prompt diagnosis. Isr Med Assoc J (2004) 1.39
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia (2014) 1.38
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol (2005) 1.32
Significance of microcephaly among children with developmental disabilities. J Child Neurol (2002) 1.28
Mice deficient in ribosomal protein S6 phosphorylation suffer from muscle weakness that reflects a growth defect and energy deficit. PLoS One (2009) 1.24
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet (2010) 1.21
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Mol Genet Metab (2011) 1.20
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet (2008) 1.13
Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain. J Biol Chem (2013) 1.11
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet (2010) 1.07
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
Should autistic children be evaluated for mitochondrial disorders? J Child Neurol (2004) 1.06
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol (2009) 1.05
The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition. J Biol Chem (2010) 1.05
The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochim Biophys Acta (2011) 1.05
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet (2009) 1.05
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A (2013) 1.04
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet (2010) 1.04
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. J Biol Chem (2002) 1.04
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol (2008) 1.02
Neurologic involvement in a child with systemic capillary leak syndrome. Pediatrics (2010) 1.01
The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Mitochondrion (2008) 1.00
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab (2007) 0.99
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics (2012) 0.99
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet (2008) 0.99
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet (2013) 0.98
The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn (2009) 0.98
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA. Prenat Diagn (2003) 0.97
Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects. Mitochondrion (2009) 0.97
Clinical experience with open-label topiramate use in infants younger than 2 years of age. J Child Neurol (2003) 0.96
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet J Rare Dis (2012) 0.96
Apoptosis-like death, an extreme SOS response in Escherichia coli. MBio (2014) 0.95
Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings. AJNR Am J Neuroradiol (2003) 0.95
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A (2009) 0.95
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab (2010) 0.95
Clinical and radiologic correlates of frontal intermittent rhythmic delta activity. J Clin Neurophysiol (2002) 0.94
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab (2009) 0.94
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet (2010) 0.93
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. Clin Immunol (2011) 0.93
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy. Cardiovasc Toxicol (2008) 0.93