Published in AJNR Am J Neuroradiol on March 01, 2005
Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology (2009) 3.61
Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ScientificWorldJournal (2012) 0.97
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology (2012) 0.91
Isolated cranial nerve enhancement in metachromatic leukodystrophy. Pediatr Neurol (2009) 0.88
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis (2011) 0.88
Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. Lipids (2008) 0.88
Neurological picture. Tigroid and leopard skin pattern of dysmyelination in metachromatic leucodystrophy. J Neurol Neurosurg Psychiatry (2006) 0.79
Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis. ASN Neuro (2015) 0.75
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients. Iran J Child Neurol (2015) 0.75
Classical case of late-infantile form of metachromatic leukodystrophy. J Neurosci Rural Pract (2016) 0.75
"Reverse Tigroid" Pattern in Pachygyria: A Novel Finding. J Clin Imaging Sci (2016) 0.75
Oral fingolimod or intramuscular interferon for relapsing multiple sclerosis. N Engl J Med (2010) 13.82
Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration. Lancet Neurol (2013) 6.18
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Evaluation of patients treated with natalizumab for progressive multifocal leukoencephalopathy. N Engl J Med (2006) 5.20
Further Implications of Off-Label Use of Acetazolamide in the Management of Moyamoya Disease in Japan: Response. Radiology (2017) 4.99
Altered resting state networks in mild cognitive impairment and mild Alzheimer's disease: an fMRI study. Hum Brain Mapp (2005) 4.11
PML in a patient treated with dimethyl fumarate from a compounding pharmacy. N Engl J Med (2013) 4.02
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet (2008) 3.93
Ocrelizumab in relapsing-remitting multiple sclerosis: a phase 2, randomised, placebo-controlled, multicentre trial. Lancet (2011) 3.76
Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology (2009) 3.61
MRI criteria for multiple sclerosis in patients presenting with clinically isolated syndromes: a multicentre retrospective study. Lancet Neurol (2007) 3.47
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
Long-term effect of early treatment with interferon beta-1b after a first clinical event suggestive of multiple sclerosis: 5-year active treatment extension of the phase 3 BENEFIT trial. Lancet Neurol (2009) 3.42
Comparison of fingolimod with interferon beta-1a in relapsing-remitting multiple sclerosis: a randomised extension of the TRANSFORMS study. Lancet Neurol (2011) 3.16
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mechanism of amyloid removal in patients with Alzheimer disease treated with gantenerumab. Arch Neurol (2011) 2.75
A novel cerebral microangiopathy with endothelial cell atypia and multifocal white matter lesions: a direct mycoplasmal infection? J Neuropathol Exp Neurol (2007) 2.69
Chronic cerebrospinal venous insufficiency and multiple sclerosis. Ann Neurol (2010) 2.63
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Small vessel disease and general cognitive function in nondisabled elderly: the LADIS study. Stroke (2005) 2.59
Progression of white matter hyperintensities and incidence of new lacunes over a 3-year period: the Leukoaraiosis and Disability study. Stroke (2008) 2.57
Intracortical lesions in multiple sclerosis: improved detection with 3D double inversion-recovery MR imaging. Radiology (2005) 2.47
Tumefactive multiple sclerosis lesions under fingolimod treatment. Neurology (2012) 2.44
Heterogeneity of small vessel disease: a systematic review of MRI and histopathology correlations. J Neurol Neurosurg Psychiatry (2010) 2.44
MRI and the diagnosis of multiple sclerosis: expanding the concept of "no better explanation". Lancet Neurol (2006) 2.44
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Access to transportation and health care utilization in a rural region. J Rural Health (2005) 2.40
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
Measurement of atrophy in multiple sclerosis: pathological basis, methodological aspects and clinical relevance. Brain (2002) 2.30
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol (2009) 2.26
Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet (2007) 2.19
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol (2005) 2.16
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain (2014) 2.14
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Loss of 'small-world' networks in Alzheimer's disease: graph analysis of FMRI resting-state functional connectivity. PLoS One (2010) 2.12
Clinically isolated syndromes suggestive of multiple sclerosis, part I: natural history, pathogenesis, diagnosis, and prognosis. Lancet Neurol (2005) 2.10
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
MRI in multiple sclerosis: current status and future prospects. Lancet Neurol (2008) 2.08
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics (2014) 2.08
Cortical lesions in multiple sclerosis: combined postmortem MR imaging and histopathology. AJNR Am J Neuroradiol (2005) 2.07
Grey matter volume in a large cohort of MS patients: relation to MRI parameters and disability. Mult Scler (2011) 2.07
Lack of association between antimyelin antibodies and progression to multiple sclerosis. N Engl J Med (2007) 2.06
Grey matter pathology in multiple sclerosis. Lancet Neurol (2008) 1.97
Interferon beta-1a for brain tissue loss in patients at presentation with syndromes suggestive of multiple sclerosis: a randomised, double-blind, placebo-controlled trial. Lancet (2004) 1.93
Impact of white matter hyperintensities scoring method on correlations with clinical data: the LADIS study. Stroke (2006) 1.88
Intravenous immunoglobulin for treatment of mild-to-moderate Alzheimer's disease: a phase 2, randomised, double-blind, placebo-controlled, dose-finding trial. Lancet Neurol (2013) 1.84
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study. Neuroradiology (2007) 1.80
Comparison of two dosing frequencies of subcutaneous interferon beta-1a in patients with a first clinical demyelinating event suggestive of multiple sclerosis (REFLEX): a phase 3 randomised controlled trial. Lancet Neurol (2011) 1.79
Imaging markers for Alzheimer disease: which vs how. Neurology (2013) 1.76
Unusual variants of Alexander's disease. Ann Neurol (2005) 1.76
On the etiology of incident brain lacunes: longitudinal observations from the LADIS study. Stroke (2008) 1.75
Association between pathological and MRI findings in multiple sclerosis. Lancet Neurol (2012) 1.70
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet (2010) 1.69
Improved detection of active multiple sclerosis lesions: 3D subtraction imaging. Radiology (2010) 1.68
No association of abnormal cranial venous drainage with multiple sclerosis: a magnetic resonance venography and flow-quantification study. J Neurol Neurosurg Psychiatry (2010) 1.68
Accelerated aging, decreased white matter integrity, and associated neuropsychological dysfunction 25 years after pediatric lymphoid malignancies. J Clin Oncol (2013) 1.67
Whole-brain atrophy rate and CSF biomarker levels in MCI and AD: a longitudinal study. Neurobiol Aging (2008) 1.67
Structural magnetic resonance imaging in the practical assessment of dementia: beyond exclusion. Lancet Neurol (2002) 1.64
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol (2012) 1.63
Microbleeds do not affect rate of cognitive decline in Alzheimer disease. Neurology (2012) 1.62
Overdiagnosis of multiple sclerosis and magnetic resonance imaging criteria. Ann Neurol (2005) 1.61
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res (2003) 1.60
Steps to standardization and validation of hippocampal volumetry as a biomarker in clinical trials and diagnostic criterion for Alzheimer's disease. Alzheimers Dement (2011) 1.59
Model-free group analysis shows altered BOLD FMRI networks in dementia. Hum Brain Mapp (2009) 1.59
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol (2013) 1.58
Patients with Alzheimer disease with multiple microbleeds: relation with cerebrospinal fluid biomarkers and cognition. Stroke (2009) 1.57
Injury markers but not amyloid markers are associated with rapid progression from mild cognitive impairment to dementia in Alzheimer's disease. J Alzheimers Dis (2012) 1.57
Location of brain lesions predicts conversion of clinically isolated syndromes to multiple sclerosis. Neurology (2012) 1.57
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol (2003) 1.57
White matter tract integrity in aging and Alzheimer's disease. Hum Brain Mapp (2009) 1.57
Whole-brain atrophy rate and cognitive decline: longitudinal MR study of memory clinic patients. Radiology (2008) 1.56
Resting-state fMRI changes in Alzheimer's disease and mild cognitive impairment. Neurobiol Aging (2011) 1.54
Diffusion changes predict cognitive and functional outcome: the LADIS study. Ann Neurol (2013) 1.54
Clinical proton MR spectroscopy in central nervous system disorders. Radiology (2014) 1.53
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol (2005) 1.53
Frontal-striatal dysfunction during planning in obsessive-compulsive disorder. Arch Gen Psychiatry (2005) 1.53
Risk of rapid global functional decline in elderly patients with severe cerebral age-related white matter changes: the LADIS study. Arch Intern Med (2007) 1.52
Prediction of dementia in MCI patients based on core diagnostic markers for Alzheimer disease. Neurology (2013) 1.51
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet (2009) 1.47
Determinants of cerebral atrophy rate at the time of diagnosis of multiple sclerosis. Arch Neurol (2007) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
The clinical profile of right temporal lobe atrophy. Brain (2009) 1.46
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46