Published in Dev Disabil Res Rev on January 01, 2010
OXPHOS mutations and neurodegeneration. EMBO J (2012) 1.33
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis (2012) 1.26
Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology (2014) 0.94
Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. Neuroradiology (2017) 0.88
Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS. Neurotherapeutics (2013) 0.82
Neuroimaging in mitochondrial disorders. Neurotherapeutics (2013) 0.81
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med (2016) 0.81
Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA Neurol (2013) 0.81
Clinical, biological, and imaging features of monogenic Alzheimer's Disease. Biomed Res Int (2013) 0.77
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. Neuroradiol J (2013) 0.76
Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia. Int J Mol Sci (2015) 0.76
Persistent hyperlactacidaemia: about a clinical case. BMJ Case Rep (2013) 0.75
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
Mitochondrial disease: a practical approach for primary care physicians. Pediatrics (2007) 2.06
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain (2012) 1.69
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol (2013) 1.50
Proton magnetic resonance spectroscopy and MRI reveal no evidence for brain mitochondrial dysfunction in children with autism spectrum disorder. J Autism Dev Disord (2012) 1.49
Supplemental oxygen causes increased signal intensity in subarachnoid cerebrospinal fluid on brain FLAIR MR images obtained in children during general anesthesia. Radiology (2004) 1.47
Neuroimaging of mitochondrial disease. Mitochondrion (2008) 1.43
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab (2011) 1.41
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40
Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2014) 1.40
Neurologic considerations in propionic acidemia. Mol Genet Metab (2011) 1.34
Bronchial artery embolization for hemoptysis. Semin Intervent Radiol (2008) 1.31
Brain volume findings in 6-month-old infants at high familial risk for autism. Am J Psychiatry (2012) 1.30
Gray and white matter brain chemistry in young children with autism. Arch Gen Psychiatry (2006) 1.21
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med (2002) 1.11
Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. Psychiatry Res (2009) 1.11
The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve (2012) 1.06
Basal ganglia morphometry and repetitive behavior in young children with autism spectrum disorder. Autism Res (2011) 1.05
Corpus callosum morphometrics in young children with autism spectrum disorder. J Autism Dev Disord (2006) 1.04
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet A (2009) 1.02
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet C Semin Med Genet (2013) 1.01
Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe. J Magn Reson (2008) 0.99
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn (2005) 0.98
Longitudinal features of STIR bright signal in FSHD. Muscle Nerve (2014) 0.97
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. Pediatr Int (2012) 0.96
Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia (2008) 0.95
Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol (2013) 0.94
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr (2011) 0.92
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Muscle Nerve (2010) 0.91
Current oral and non-oral routes of antiepileptic drug delivery. Adv Drug Deliv Rev (2012) 0.91
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol (2010) 0.91
Mitochondrial translational inhibitors in the pharmacopeia. Biochim Biophys Acta (2012) 0.89
Propofol sedation for longitudinal pediatric neuroimaging research. J Neurosurg Anesthesiol (2005) 0.88
Paramagnetic effect of supplemental oxygen on CSF hyperintensity on fluid-attenuated inversion recovery MR images. AJNR Am J Neuroradiol (2004) 0.87
Use of dexmedetomidine in awake craniotomy in adolescents: report of two cases. Paediatr Anaesth (2006) 0.86
Is postresective intraoperative electrocorticography predictive of seizure outcomes in children? J Neurosurg Pediatr (2012) 0.86
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion (2013) 0.86
Intracerebral bleeding in a patient with neurosarcoidosis while on corticosteroid therapy. South Med J (2005) 0.85
Imaging bithalamic pathology in the pediatric brain: demystifying a diagnostic conundrum. AJR Am J Roentgenol (2011) 0.85
Outcome following surgery for temporal lobe epilepsy with hippocampal involvement in preadolescent children: emphasis on mesial temporal sclerosis. J Neurosurg (2007) 0.85
Techniques in vascular and interventional radiology: pediatric central venous access. Tech Vasc Interv Radiol (2010) 0.85
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects. Seizure (2011) 0.84
Localization of extratemporal seizure with noninvasive dense-array EEG. Comparison with intracranial recordings. Pediatr Neurosurg (2008) 0.84
New frontiers in neuroimaging applications to inborn errors of metabolism. Mol Genet Metab (2011) 0.84
Ultrasound-guided endovenous diode laser in the treatment of congenital venous malformations: preliminary experience. J Vasc Interv Radiol (2005) 0.83
Stiripentol in Dravet syndrome: results of a retrospective U.S. study. Epilepsia (2013) 0.83
Apnea caused by mesial temporal lobe mass lesions in infants: report of 3 cases. J Child Neurol (2007) 0.82
Gorham-stout syndrome of the petrous apex causing chronic cerebrospinal fluid leak. Otol Neurotol (2010) 0.82
DTI fiber tracking to differentiate demyelinating diseases from diffuse brain stem glioma. Neuroimage (2010) 0.82
Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet A (2013) 0.82
Functional magnetic resonance imaging for presurgical evaluation of very young pediatric patients with epilepsy. J Neurosurg Pediatr (2010) 0.82
Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies. Mitochondrion (2007) 0.81
Atypical developmental patterns of brain chemistry in children with autism spectrum disorder. JAMA Psychiatry (2013) 0.81
Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol (2013) 0.81
Transcranial Doppler-based assessment of cerebral autoregulation in critically ill children during diabetic ketoacidosis treatment. Pediatr Crit Care Med (2014) 0.80
Interventional radiology for paediatric trauma. Pediatr Radiol (2008) 0.79
Preserved interhemispheric functional connectivity in a case of corpus callosum agenesis. Neuroradiology (2011) 0.79
Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities. Am J Med Genet A (2014) 0.79
MRI of pediatric patients: Part 2, normal variants and abnormalities of the knee. AJR Am J Roentgenol (2012) 0.79
Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. Pediatr Neurol (2009) 0.79
Mitochondrial mechanisms and neurological disorders. Neurotherapeutics (2013) 0.78
Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet C Semin Med Genet (2015) 0.78
Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? Am J Med Genet C Semin Med Genet (2013) 0.77
Mitochondrial electron transport chain deficiency, cardiomyopathy, and long-term cardiac transplant outcome. Pediatr Transplant (2012) 0.76
Fraction of inspired oxygen in relation to cerebrospinal fluid hyperintensity on FLAIR MR imaging of the brain in children and young adults undergoing anesthesia. AJR Am J Roentgenol (2002) 0.76
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol (2011) 0.76
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. Pediatr Neurol (2012) 0.75
Introduction: past, present, and future care of individuals with XXY. Am J Med Genet C Semin Med Genet (2013) 0.75
Pediatric image-guided nonvascular musculoskeletal interventions. Tech Vasc Interv Radiol (2010) 0.75
Tissue localization during resective epilepsy surgery. Neurosurg Focus (2013) 0.75
Assessment of diffusion tensor image quality across sites and vendors using the American College of Radiology head phantom. J Appl Clin Med Phys (2016) 0.75
A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann (2008) 0.75
Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature. Pediatr Neurol (2012) 0.75
Dysphagia after pediatric functional hemispherectomy. J Neurosurg Pediatr (2013) 0.75
Pediatric liver transplant portal vein anastomotic stenosis: correlation between ultrasound and transhepatic portal venography. Liver Transpl (2015) 0.75
Developmental and psychiatric presentations of inherited metabolic disorders. Pediatr Neurol (2013) 0.75
Epilepsy surgery after treatment of pediatric malignant brain tumors. Seizure (2012) 0.75