A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia Fulltext Access 4 Pages 2018
Improvement of distal acquired demyelinating symmetric (DADS) neuropathy after exposure to factor Xa inhibitor Fulltext Access 4 Pages 2018
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene Fulltext Access 4 Pages 2018
Cognitive function in Rett syndrome: Profoundly impaired or near normal? Fulltext Access 4 Pages 2018
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome Fulltext Access 4 Pages 2018
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients Fulltext Access 4 Pages 2018
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in childr Fulltext Access 4 Pages 2018
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet Fulltext Access 4 Pages 2018
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum Fulltext Access 4 Pages 2018
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene Fulltext Access 4 Pages 2018
Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation Fulltext Access 4 Pages 2018
CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report Fulltext Access 4 Pages 2018
The efficacy of adrenocorticotropic hormone in a girl with anti-N-methyl-D-aspartate receptor encephalitis Fulltext Access 4 Pages 2018
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies Fulltext Access 4 Pages 2018
A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy Fulltext Access 4 Pages 2018
Successful use of non-invasive positive pressure ventilation in a patient with the severe form of X-linked myotubular myopathy Fulltext Access 4 Pages 2018
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation Fulltext Access 4 Pages 2018
Guillain-Barré syndrome and optic neuritis after Mycoplasma pneumoniae infection Fulltext Access 4 Pages 2018
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures Fulltext Access 4 Pages 2018
Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis Fulltext Access 4 Pages 2018
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever Fulltext Access 4 Pages 2018
Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome Fulltext Access 4 Pages 2018
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report Fulltext Access 4 Pages 2018
Tamoxifen treatment and occurrence of dural arteriovenous fistulas: An observational study on a series of patients presenting tamoxifen history and diagnosis of DAVf Fulltext Access 4 Pages 2018
Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk Fulltext Access 4 Pages 2018
Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG Fulltext Access 4 Pages 2018
Association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS) Fulltext Access 4 Pages 2018
Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation Fulltext Access 4 Pages 2018
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function Fulltext Access 4 Pages 2018
Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder) Fulltext Access 4 Pages 2018
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats Fulltext Access 4 Pages 2018
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats Fulltext Access 4 Pages 2018
Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant Fulltext Access 4 Pages 2018
TNF-α â 308 G/A and â 238 G/A promoter polymorphisms and sporadic Parkinson's disease in an Italian cohort Fulltext Access 4 Pages 2018
Imaging intralesional heterogeneity of sodium concentration in multiple sclerosis: Initial evidence from 23Na-MRI Fulltext Access 4 Pages 2018
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing Fulltext Access 4 Pages 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2) Fulltext Access 4 Pages 2018
Cytokine/chemokine elevation during the transition phase from HSV encephalitis to autoimmune anti-NMDA receptor encephalitis Fulltext Access 5 Pages 2018
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome Fulltext Access 5 Pages 2018
Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement Fulltext Access 5 Pages 2018
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis Fulltext Access 5 Pages 2018
Arterial spin labeling MR imaging for the clinical detection of cerebellar hypoperfusion in patients with spinocerebellar degeneration Fulltext Access 5 Pages 2018
Collateral circulation assessment within the 4.5â¯h time window in patients with and without DWI/FLAIR MRI mismatch Fulltext Access 5 Pages 2018
Mobile Universal Lexicon Evaluation System (MULES) in MS: Evaluation of a new visual test of rapid picture naming Fulltext Access 5 Pages 2018
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype Fulltext Access 5 Pages 2018
The first Japanese report on neuromyelitis optica rediscovered: acute bilateral blindness, tetraparesis and respiratory insufficiency in a 35-year-old man (1891) Fulltext Access 5 Pages 2018
Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study Fulltext Access 5 Pages 2018
The Glasgow Outcome Scale Extended-Revised (GOSE-R) to include minimally conscious state in the vegetative state category Fulltext Access 5 Pages 2018
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene Fulltext Access 5 Pages 2018
Immunohistochemistry and electrophysiological findings in swine abattoir workers with immune-mediated polyradiculoneuropathy Fulltext Access 5 Pages 2018
Scan without evidence of dopaminergic deficit (SWEDD) in degenerative parkinsonism and dementia with Lewy bodies: A prospective study Fulltext Access 5 Pages 2018
Lack of an association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS) Fulltext Access 5 Pages 2018
Effect of switching from glatiramer acetate 20â¯mg/daily to glatiramer acetate 40â¯mg three times a week on gray and white matter pathology in subjects with relapsing multiple sclerosis: A longitudinal DTI study Fulltext Access 5 Pages 2018
The impact of very short transition times on switching from Natalizumab to Fingolimod on imaging and clinical effectiveness outcomes in multiple sclerosis Fulltext Access 5 Pages 2018
Oligoclonal bands and periventricular lesions in multiple sclerosis will not increase blood-brain barrier permeability Fulltext Access 5 Pages 2018
The combined effects of cardiovascular disease related SNPs on ischemic stroke Fulltext Access 5 Pages 2018
'The shock of diagnosis': Qualitative accounts from people with Motor Neurone Disease reflecting the need for more person-centred care Fulltext Access 5 Pages 2018
Eye movement abnormalities in AQP4-IgG positive neuromyelitis optica spectrum disorder Fulltext Access 5 Pages 2018
Clinical and radiological determinants of transient symptoms associated with infarction (TSI) Fulltext Access 5 Pages 2018
Cerebrovascular imaging of cerebral ischemia in acute type A aortic dissection Fulltext Access 5 Pages 2018
Zonisamide cotreatment delays striatal dopamine transporter reduction in Parkinson disease: A retrospective, observational cohort study Fulltext Access 5 Pages 2018
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes Fulltext Access 5 Pages 2018
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis Fulltext Access 5 Pages 2018
Epistatic interaction of apolipoprotein E and lipolysis-stimulated lipoprotein receptor genetic variants is associated with Alzheimer's disease Fulltext Access 5 Pages 2018
Stable olfactory sensory neuron in vivo physiology during normal aging Fulltext Access 5 Pages 2018
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins Fulltext Access 5 Pages 2018
Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 Fulltext Access 5 Pages 2018
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation Fulltext Access 5 Pages 2018
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation Fulltext Access 5 Pages 2018
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation Fulltext Access 5 Pages 2018
Bickerstaff's brainstem encephalitis with overlapping Guillain-Barré syndrome: Usefulness of sequential nerve conduction studies Fulltext Access 5 Pages 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation Fulltext Access 5 Pages 2018
An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation Fulltext Access 5 Pages 2018
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review Fulltext Access 5 Pages 2018
A case of severe Alexander disease with de novo c. 239â¯Tâ¯>â¯C, p.(F80S), in GFAP Fulltext Access 5 Pages 2018
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation Fulltext Access 5 Pages 2018
Brain-derived neutrophic factor in adolescents smoking waterpipe: The Irbid TRY Fulltext Access 5 Pages 2018
Deciphering brain-specific transcriptomic expression of Ezr, Rad and Msn genes in the development of Mus musculus Fulltext Access 5 Pages 2018
Frankincense upregulates the hippocampal calcium/calmodulin kinase II-α during development of the rat brain and improves memory performance Fulltext Access 5 Pages 2018
Phagocyte NADPH oxidase, oxidative stress and lipids: Anti- or pro ageing? Fulltext Access 5 Pages 2018
Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features Fulltext Access 5 Pages 2018