Published in Ann Neurol on March 01, 2004
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Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? JIMD Rep (2014) 0.78
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The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism. J Inherit Metab Dis (2008) 0.77
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis (2017) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
International network of cancer genome projects. Nature (2010) 20.35
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Prepublication data sharing. Nature (2009) 12.24
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
A physical map of the mouse genome. Nature (2002) 4.97
Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A (2003) 4.44
SUMO modification of Huntingtin and Huntington's disease pathology. Science (2004) 3.85
Posttraumatic osteoarthritis: a first estimate of incidence, prevalence, and burden of disease. J Orthop Trauma (2006) 3.37
The DNA sequence of human chromosome 7. Nature (2003) 3.18
Principles of pediatric emergency care. Dtsch Arztebl Int (2009) 3.14
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes. PLoS Comput Biol (2009) 2.61
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature (2005) 2.27
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science (2004) 2.17
IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J Cell Biol (2009) 2.16
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
SIRT2 inhibition achieves neuroprotection by decreasing sterol biosynthesis. Proc Natl Acad Sci U S A (2010) 2.09
Locked plating of distal femur fractures leads to inconsistent and asymmetric callus formation. J Orthop Trauma (2010) 2.08
Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington's disease. Hum Mol Genet (2008) 2.05
Payer status and increased distance traveled for fracture care in a rural state. J Orthop Trauma (2013) 2.03
Current and future use of surgical skills training laboratories in orthopaedic resident education: a national survey. J Bone Joint Surg Am (2013) 2.03
Formation of the BMP activity gradient in the Drosophila embryo. Dev Cell (2005) 1.98
The HSPGs Syndecan and Dallylike bind the receptor phosphatase LAR and exert distinct effects on synaptic development. Neuron (2006) 1.98
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis. Hum Mol Genet (2006) 1.96
A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo. Proc Natl Acad Sci U S A (2005) 1.88
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet (2005) 1.87
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 1.86
A physical map of the chicken genome. Nature (2004) 1.86
A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila. Proc Natl Acad Sci U S A (2003) 1.84
Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans. PLoS Biol (2005) 1.82
Feasibility study and control values of transient elastography in healthy children. Eur J Pediatr (2011) 1.80
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A (2009) 1.79
Green tea (-)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models. Hum Mol Genet (2006) 1.77
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Clinical trial to evaluate omega-3 fatty acids and alternate day prednisone in patients with IgA nephropathy: report from the Southwest Pediatric Nephrology Study Group. Clin J Am Soc Nephrol (2006) 1.76
Quantifying tibial plafond fracture severity: absorbed energy and fragment displacement agree with clinical rank ordering. J Orthop Res (2008) 1.76
Cancer genomics: technology, discovery, and translation. J Clin Oncol (2012) 1.70
A unique DNA binding domain converts T-cell factors into strong Wnt effectors. Mol Cell Biol (2007) 1.70
Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA. Genome Res (2007) 1.62
Elevated coding mutation rate during the reprogramming of human somatic cells into induced pluripotent stem cells. Stem Cells (2012) 1.62
Interfragmentary surface area as an index of comminution severity in cortical bone impact. J Orthop Res (2004) 1.61
Circadian changes in CSF dopaminergic measures in restless legs syndrome. Sleep Med (2006) 1.58
Patient-specific finite element analysis of chronic contact stress exposure after intraarticular fracture of the tibial plafond. J Orthop Res (2008) 1.58
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol (2003) 1.54
Suppression of Huntington's disease pathology in Drosophila by human single-chain Fv antibodies. Proc Natl Acad Sci U S A (2005) 1.52
Feasibility of real time next generation sequencing of cancer genes linked to drug response: results from a clinical trial. Int J Cancer (2012) 1.49
Design principles for virtual patients: a focus group study among students. Med Educ (2009) 1.48
A rapid cellular FRET assay of polyglutamine aggregation identifies a novel inhibitor. Neuron (2003) 1.45
Identification of combinatorial drug regimens for treatment of Huntington's disease using Drosophila. Proc Natl Acad Sci U S A (2005) 1.45
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis (2013) 1.45
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res (2007) 1.44
Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity. Hum Mol Genet (2005) 1.42
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis (2012) 1.41
A risk calculator for short-term morbidity and mortality after hip fracture surgery. J Orthop Trauma (2014) 1.41
Far cortical locking can improve healing of fractures stabilized with locking plates. J Bone Joint Surg Am (2010) 1.40
Objective CT-based metrics of articular fracture severity to assess risk for posttraumatic osteoarthritis. J Orthop Trauma (2010) 1.39
Large-scale RT-PCR recovery of full-length cDNA clones. Biotechniques (2004) 1.37
Mithramycin is a gene-selective Sp1 inhibitor that identifies a biological intersection between cancer and neurodegeneration. J Neurosci (2011) 1.36
Expression of Wnt genes and frizzled 1 and 2 receptors in normal breast epithelium and infiltrating breast carcinoma. Int J Oncol (2004) 1.35
Conformation dependent monoclonal antibodies distinguish different replicating strains or conformers of prefibrillar Aβ oligomers. Mol Neurodegener (2010) 1.34
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis (2012) 1.34
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Phosphorylation of threonine 3: implications for Huntingtin aggregation and neurotoxicity. J Biol Chem (2009) 1.34
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis (2006) 1.32
ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease. Hum Mol Genet (2010) 1.32
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol (2010) 1.31
High-energy fractures of the tibial plateau. Knee function after longer follow-up. J Bone Joint Surg Am (2002) 1.29
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
A two-step path to inclusion formation of huntingtin peptides revealed by number and brightness analysis. Biophys J (2010) 1.27
Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease. EMBO Mol Med (2010) 1.27
Unraveling the genetics of cancer: genome sequencing and beyond. Annu Rev Genomics Hum Genet (2011) 1.27
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis (2010) 1.26
Mevalonate kinase deficiency and autoinflammatory disorders. N Engl J Med (2007) 1.26
A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nat Genet (2002) 1.25
Histone deacetylase (HDAC) inhibitors targeting HDAC3 and HDAC1 ameliorate polyglutamine-elicited phenotypes in model systems of Huntington's disease. Neurobiol Dis (2012) 1.23
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis (2012) 1.23
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J (2006) 1.23
Identification of novel high-frequency DNA methylation changes in breast cancer. PLoS One (2007) 1.22
Normal-repeat-length polyglutamine peptides accelerate aggregation nucleation and cytotoxicity of expanded polyglutamine proteins. Proc Natl Acad Sci U S A (2006) 1.21
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain (2009) 1.20
Evidence-based assessment of acute pain in older adults: current nursing practices and perceived barriers. Clin J Pain (2004) 1.20
Factors affecting outcome in tibial plafond fractures. Clin Orthop Relat Res (2004) 1.20
Articular fractures. J Am Acad Orthop Surg (2004) 1.18
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
Software for automated analysis of DNA fingerprinting gels. Genome Res (2003) 1.18
Effects of construct stiffness on healing of fractures stabilized with locking plates. J Bone Joint Surg Am (2010) 1.17
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab (2008) 1.17
Is elevated contact stress predictive of post-traumatic osteoarthritis for imprecisely reduced tibial plafond fractures? J Orthop Res (2011) 1.17
CEP-1347 reduces mutant huntingtin-associated neurotoxicity and restores BDNF levels in R6/2 mice. Mol Cell Neurosci (2008) 1.16
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14