Published in Dev Med Child Neurol on December 01, 2008
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Neurological aspects in hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol (2008) 0.75
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A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report. J Med Case Rep (2016) 0.75
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatr Neurol (2007) 2.62
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol (2009) 2.12
Is obstructive sleep apnea a problem in Parkinson's disease? Sleep Med (2009) 2.09
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07
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Myoclonus-dystonia: an update. Mov Disord (2009) 1.90
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet (2009) 1.86
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study. Arch Neurol (2011) 1.79
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology (2013) 1.78
Alcohol cues increase cognitive impulsivity in individuals with alcoholism. Psychopharmacology (Berl) (2007) 1.78
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab (2012) 1.68
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis (2014) 1.60
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab (2007) 1.59
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr (2010) 1.52
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet (2008) 1.48
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Restoration of normal motor control in Parkinson's disease during REM sleep. Brain (2007) 1.47
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy. Dev Med Child Neurol (2012) 1.43
Myoclonus or tremor in orthostatism: an under-recognized cause of unsteadiness in Parkinson's disease. Mov Disord (2007) 1.42
TENS for the treatment of propriospinal myoclonus. Mov Disord (2008) 1.41
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus? Dev Med Child Neurol (2008) 1.39
Disability and empowerment. Dev Med Child Neurol (2020) 1.39
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab (2009) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Role of the ERK/MSK1 signalling pathway in chromatin remodelling and brain responses to drugs of abuse. J Neurochem (2009) 1.34
PRRT2 mutations cause hemiplegic migraine. Neurology (2012) 1.30
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res (2011) 1.28
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A (2011) 1.26
Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab (2009) 1.23
Endogenous hydrogen sulfide overproduction in Down syndrome. Am J Med Genet A (2003) 1.22
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet (2009) 1.20
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc Natl Acad Sci U S A (2012) 1.19
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med (2011) 1.18
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat (2008) 1.13
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One (2008) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Impaired emotional facial expression recognition in alcoholics, opiate dependence subjects, methadone maintained subjects and mixed alcohol-opiate antecedents subjects compared with normal controls. Psychiatry Res (2003) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet (2008) 1.10
Recognition of emotional facial expressions in attention-deficit hyperactivity disorder. Pediatr Neurol (2006) 1.10
Hypothalamic dysfunction associated with neuroblastoma: evidence for a new Paraneoplastic syndrome? Med Pediatr Oncol (2003) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
Response inhibition deficit is involved in poor decision making under risk in nonamnesic individuals with alcoholism. Neuropsychology (2007) 1.09
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr (2006) 1.09
Congenital mirror movements: a clue to understanding bimanual motor control. J Neurol (2011) 1.08
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain (2013) 1.07
Defective cerebellar control of cortical plasticity in writer's cramp. Brain (2013) 1.06
Children with sickle cell disease: growth and gonadal function after hematopoietic stem cell transplantation. J Pediatr Hematol Oncol (2007) 1.06
RAD51 deficiency disrupts the corticospinal lateralization of motor control. Brain (2013) 1.06
Postinfectious immune-mediated encephalitis after pediatric herpes simplex encephalitis. Brain Dev (2005) 1.06
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes (2003) 1.06
Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry (2012) 1.05
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care (2011) 1.04
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci (2008) 1.04
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res (2009) 1.04
RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet (2012) 1.04
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat (2011) 1.03
Impaired emotional facial expression recognition is associated with interpersonal problems in alcoholism. Alcohol Alcohol (2002) 1.03
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain (2014) 1.03
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. J Hepatol (2011) 1.03
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis (2012) 1.02
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis (2013) 1.01
Developmental and benign movement disorders in childhood. Mov Disord (2010) 1.01
Inactivation of calcium-binding protein genes induces 160 Hz oscillations in the cerebellar cortex of alert mice. J Neurosci (2004) 1.01
Development of pendulum mechanism and kinematic coordination from the first unsupported steps in toddlers. J Exp Biol (2004) 1.00