Published in Am J Med Genet A on November 15, 2004
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study. BMC Neurol (2010) 1.15
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain (2013) 1.15
Cyclical vomiting syndrome: Recognition, assessment and management. World J Clin Pediatr (2014) 0.99
Mitochondrial vasculopathy. World J Cardiol (2016) 0.98
Gastrointestinal manifestations of mitochondrial disorders: a systematic review. Therap Adv Gastroenterol (2016) 0.91
Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome. Microb Ecol Health Dis (2015) 0.89
Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics. Dig Dis Sci (2009) 0.87
Concomitant functional gastrointestinal symptoms influence psychological status in Korean migraine patients. Gut Liver (2013) 0.86
A possible role for mitochondrial dysfunction in migraine. Mol Genet Genomics (2012) 0.85
Adult cyclic vomiting syndrome successfully treated with intranasal sumatriptan. J Gen Intern Med (2009) 0.82
Startle reactivity in children at risk for migraine. Clin Neurophysiol (2008) 0.79
Pediatric functional gastrointestinal disorders. Nutr Clin Pract (2008) 0.77
Riboflavin in cyclic vomiting syndrome: efficacy in three children. Eur J Pediatr (2015) 0.77
Adult cyclical vomiting syndrome: a disorder of allostatic regulation? Exp Brain Res (2014) 0.76
Type 1 diabetes complicated with uncontrollable adult cyclic vomiting syndrome: a case report. J Diabetes Metab Disord (2015) 0.75
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet (2006) 6.52
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. Cell (2009) 3.63
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Effect of six-food elimination diet on clinical and histologic outcomes in eosinophilic esophagitis. Clin Gastroenterol Hepatol (2006) 2.78
Post-stroke inhibition of induced NADPH oxidase type 4 prevents oxidative stress and neurodegeneration. PLoS Biol (2010) 2.72
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Cyclic vomiting syndrome in adults. Neurogastroenterol Motil (2008) 2.40
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Rapamycin extends murine lifespan but has limited effects on aging. J Clin Invest (2013) 2.23
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Identification of specific foods responsible for inflammation in children with eosinophilic esophagitis successfully treated with empiric elimination diet. J Pediatr Gastroenterol Nutr (2011) 1.93
Introducing the German Mouse Clinic: open access platform for standardized phenotyping. Nat Methods (2005) 1.93
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol (2006) 1.86
Gene-environment interactions in Leber hereditary optic neuropathy. Brain (2009) 1.85
Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol (2013) 1.82
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome. J Pediatr Gastroenterol Nutr (2008) 1.72
Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport. Nat Neurosci (2009) 1.70
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet (2011) 1.70
Cyclic Vomiting Syndrome in 41 adults: the illness, the patients, and problems of management. BMC Med (2005) 1.66
MELAS: a mitochondrial disorder in an adult patient with a renal transplant. Wien Klin Wochenschr (2010) 1.57
The diagnostic evaluation of children with cyclic vomiting: a cost-effectiveness assessment. J Pediatr (2002) 1.55
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol (2009) 1.51
Histopathologic variability in children with eosinophilic esophagitis. Am J Gastroenterol (2009) 1.50
Genotoxic potential of lineage-specific lentivirus vectors carrying the beta-globin locus control region. Mol Ther (2009) 1.46
MitoP2: an integrative tool for the analysis of the mitochondrial proteome. Mol Biotechnol (2008) 1.44
Mouse phenotyping. Methods (2010) 1.43
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology (2007) 1.37
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43. J Biol Chem (2014) 1.37
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. J Neurosci (2009) 1.28
Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J Neurol (2008) 1.28
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
Systemic first-line phenotyping. Methods Mol Biol (2009) 1.26
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. Mov Disord (2011) 1.25
Mechanism of reduction in titers from lentivirus vectors carrying large inserts in the 3'LTR. Mol Ther (2009) 1.22
High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension. Blood (2010) 1.22
Quality of life in patients with leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci (2009) 1.21
Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry (2010) 1.18
Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta (2005) 1.16
Depression comorbidity in spinocerebellar ataxia. Mov Disord (2011) 1.15
Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study. BMC Neurol (2010) 1.15
Pantothenate kinase-associated neurodegeneration. Curr Drug Targets (2012) 1.13
Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders. Am J Physiol Gastrointest Liver Physiol (2009) 1.12
Innovations in phenotyping of mouse models in the German Mouse Clinic. Mamm Genome (2012) 1.09
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diagn (2005) 1.08
The 3' region of the chicken hypersensitive site-4 insulator has properties similar to its core and is required for full insulator activity. PLoS One (2009) 1.07
Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse. Nat Genet (2006) 1.07
Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice. J Biol Chem (2011) 1.05
Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord (2009) 1.04
Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. Am J Med Genet A (2003) 1.03
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Res (2010) 1.03
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics (2011) 1.02
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain (2012) 1.01
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol (2010) 1.01
"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour? Front Biosci (2008) 1.01
Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death. Acta Neuropathol (2011) 1.01
The seroprevalence of Helicobacter pylori in a referral population of children in the United States. Am J Gastroenterol (2003) 1.01
Cyclic vomiting syndrome plus. J Child Neurol (2006) 1.00
Regulation of IkappaB kinase (IKK) complex by IKKgamma-dependent phosphorylation of the T-loop and C terminus of IKKbeta. J Biol Chem (2006) 0.99
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat (2010) 0.98
Mitochondrial inheritance in depression, dysmotility and migraine? J Affect Disord (2005) 0.98
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97
The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour. Gene (2006) 0.96
Maternal inheritance in cyclic vomiting syndrome. Am J Med Genet A (2005) 0.96
Navigating recurrent abdominal pain through clinical clues, red flags, and initial testing. Pediatr Ann (2009) 0.96
Grasping premanifest Huntington's disease - shaping new endpoints for new trials. Mov Disord (2010) 0.95
TOM40 mediates mitochondrial dysfunction induced by α-synuclein accumulation in Parkinson's disease. PLoS One (2013) 0.95
High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner. J Biol Chem (2013) 0.95
Systematic, standardized and comprehensive neurological phenotyping of inbred mice strains in the German Mouse Clinic. J Neurosci Methods (2006) 0.92
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS One (2012) 0.92
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat (2013) 0.91
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci (2008) 0.91
Treatment of essential palatal myoclonus in a 10-year-old girl with botulinum neurotoxin. Otol Neurotol (2006) 0.91
Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms. Brain (2013) 0.90
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. J Neurol (2009) 0.90
An Internet survey of marijuana and hot shower use in adults with cyclic vomiting syndrome (CVS). Exp Brain Res (2014) 0.89
A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One (2013) 0.89
Adherent white plaques: an endoscopic finding in eosinophilic esophagitis. J Pediatr Gastroenterol Nutr (2004) 0.89
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. Mamm Genome (2009) 0.89
A survey of emergency department use in patients with cyclic vomiting syndrome. BMC Emerg Med (2010) 0.89
Psychiatric symptoms in children and adolescents with cyclic vomiting syndrome and their parents. Headache (2007) 0.88
Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes. FASEB J (2012) 0.87
Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathology. FASEB J (2012) 0.87
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. Am J Med Genet A (2013) 0.87
Pleiotropic effects in Eya3 knockout mice. BMC Dev Biol (2008) 0.86
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. Eur J Pediatr (2014) 0.86
Creatine supplementation lowers brain glutamate levels in Huntington's disease. J Neurol (2005) 0.86
SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities. DNA Repair (Amst) (2013) 0.86
Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models. Exp Physiol (2009) 0.85
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol (2013) 0.85
Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes. PLoS One (2009) 0.85