An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI Fulltext Access 4 Pages 2007
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Fulltext Access 4 Pages 2007
D-bifunctional protein deficiency associated with drug resistant infantile spasms Fulltext Access 4 Pages 2007
Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman Fulltext Access 4 Pages 2007
Early dietary treatments with Lorenzo’s oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome Fulltext Access 4 Pages 2007
Encouragement to contribute to peer-review process in clinical neurology journals Fulltext Access 4 Pages 2007
The first reported case of Menkes disease caused by an Alu insertion mutation Fulltext Access 4 Pages 2007
Elevated CSF IL-6 in a patient with respiratory syncytial virus encephalopathy Fulltext Access 4 Pages 2007
CINRG pilot trial of oxatomide in steroid-naïve Duchenne muscular dystrophy Fulltext Access 4 Pages 2007
Thyroid dysfunction associated with increased low-density lipoprotein cholesterol in epileptic children treated with carbamazepine monotherapy: A causal relationship? Fulltext Access 4 Pages 2007
False diagnosis of papilloedema and idiopathic intracranial hypertension Fulltext Access 4 Pages 2007
Phenytoin desensitization monitored by antigen specific T cell response using carboxyfluorescein succinimidyl ester dilution assay Fulltext Access 4 Pages 2007
A fourth ventricular ganglioneurocytoma representing with cerebellar epilepsy: A case report and review of the literature Fulltext Access 4 Pages 2007
A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern Fulltext Access 4 Pages 2007
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation Fulltext Access 4 Pages 2007
Anti-basal ganglia antibodies and acute movement disorder following herpes zoster and streptococcal infections Fulltext Access 4 Pages 2007
Skull base osteomyelitis leading to lateral medullary syndrome in a child Fulltext Access 4 Pages 2007
Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report Fulltext Access 4 Pages 2007
Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy Fulltext Access 4 Pages 2007
Epileptic encephalopathy with bilateral continuous spike-waves during slow sleep in a child with vacuolating megalencephalic leukoencephalopathy Fulltext Access 4 Pages 2007
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis Fulltext Access 4 Pages 2007
Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings Fulltext Access 4 Pages 2007
A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation Fulltext Access 4 Pages 2007
Corrigendum to “A high-resolution anatomical ontology of the developing murine genitourinary tract” [Gene Expression Patterns 7 (2007) 680-699] Fulltext Access 4 Pages 2007
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis Fulltext Access 4 Pages 2007
Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis Fulltext Access 4 Pages 2007
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency Fulltext Access 4 Pages 2007
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives Fulltext Access 4 Pages 2007
Murine embryonic expression of the gene for the UV-responsive protein p15PAF Fulltext Access 4 Pages 2007
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene Fulltext Access 4 Pages 2007
Skeletal dysplasia presenting as a neuromuscular disorder – report of three children Fulltext Access 4 Pages 2007
Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? Fulltext Access 4 Pages 2007
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family Fulltext Access 4 Pages 2007
A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy Fulltext Access 4 Pages 2007
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study Fulltext Access 4 Pages 2007
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase Fulltext Access 4 Pages 2007
Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome Fulltext Access 4 Pages 2007
Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs Fulltext Access 5 Pages 2007
Netrin G1 Mutations Are an Uncommon Cause of Atypical Rett Syndrome With or Without Epilepsy Fulltext Access 5 Pages 2007
Association of Cerebral Palsy With Other Disabilities in Children With Perinatal Arterial Ischemic Stroke Fulltext Access 5 Pages 2007
Role of Cytogenetics and Molecular Cytogenetics in the Diagnosis of Genetic Imbalances Fulltext Access 5 Pages 2007
Semiological Seizure Classification: Before and After Video-EEG Monitoring of Seizures Fulltext Access 5 Pages 2007
MRI Findings in Pediatric Ophthalmoplegic Migraine: A Case Report and Literature Review Fulltext Access 5 Pages 2007
Association of GABRG2 Polymorphisms With Idiopathic Generalized Epilepsy Fulltext Access 5 Pages 2007
Effects of Heavy In Utero Cocaine Exposure on Adolescent Caudate Morphology Fulltext Access 5 Pages 2007
Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges Fulltext Access 5 Pages 2007
Altered Nestin Expression in the Cerebrum With Periventricular Leukomalacia Fulltext Access 5 Pages 2007
Increased Prevalence of Silent Celiac Disease Among Greek Epileptic Children Fulltext Access 5 Pages 2007
Benign Epilepsy of Childhood With Rolandic Spikes: Typical and Atypical Variants Fulltext Access 5 Pages 2007
PHACE Syndrome with Intracerebral Hemangiomas, Heterotopia, and Endocrine Dysfunction Fulltext Access 5 Pages 2007
ARSA Gene Mutations in Five Chinese Metachromatic Leukodystrophy Patients Fulltext Access 5 Pages 2007
Infantile Onset of Hereditary Spastic Paraplegia Poorly Predicts the Genotype Fulltext Access 5 Pages 2007
Elevation of Tumor Necrosis Factor-Alpha in Cerebrospinal Fluid of Autistic Children Fulltext Access 5 Pages 2007
Age effects on gray matter volume and attentional performance in Zen meditation Fulltext Access 5 Pages 2007
CSF biomarkers and medial temporal lobe atrophy predict dementia in mild cognitive impairment Fulltext Access 5 Pages 2007
Preliminary evidence that long-term estrogen use reduces white matter loss in aging Fulltext Access 5 Pages 2007
The developmental expression of foxl2 in the dogfish Scyliorhinus canicula Fulltext Access 5 Pages 2007
The bHLH transcription factor Tcf12 (ME1) mRNA is abundantly expressed in Paneth cells of mouse intestine Fulltext Access 5 Pages 2007
Hedgehog pathway gene expression during early development of the molar tooth root in the mouse Fulltext Access 5 Pages 2007
Isolation and expression of zebrafish zinc-finger transcription factor gene tsh1 Fulltext Access 5 Pages 2007
Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and development Fulltext Access 5 Pages 2007
Dynamic expression of the osmosensory channel trpv4 in multiple developing organs in zebrafish Fulltext Access 5 Pages 2007
RNA of AmVegT, the axolotl orthologue of the Xenopus meso-endodermal determinant, is not localized in the oocyte Fulltext Access 5 Pages 2007
Expression of the Scube3 epidermal growth factor-related gene during early embryonic development in the mouse Fulltext Access 5 Pages 2007
The effect of prenatal X-irradiation on the developing cerebral cortex of rats. II: A quantitative assessment of glial cells in the somatosensory cortex Fulltext Access 5 Pages 2007
Reduction of gangliosides, phospholipids and cholesterol content in cerebral cortex of rats caused by chronic hypermethioninemia Fulltext Access 5 Pages 2007
Comparing diffusion-weighted and T2-weighted MR imaging for the quantification of infarct size in a neonatal rat hypoxic–ischemic model at 24 h post-injury Fulltext Access 5 Pages 2007
Chronic administration of methylphenidate activates mitochondrial respiratory chain in brain of young rats Fulltext Access 5 Pages 2007
Effects of pre- and neonatal exposure to bisphenol A on murine brain development Fulltext Access 5 Pages 2007
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males Fulltext Access 5 Pages 2007
Apneic Seizures: A Sign of Temporal Lobe Hemorrhage in Full-Term Neonates Fulltext Access 5 Pages 2007
Age-Related Variation in Presenting Signs of Childhood Arterial Ischemic Stroke Fulltext Access 5 Pages 2007