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Management Strategies for Cln2 Disease
(Elsevier Science Inc, 2017)
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, ...
Mri As Diagnostic Tool In Early-Onset Peroxisomal Disorders
(Lippincott Williams & Wilkins, 2012)
Objective: Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing abnormalities ...
Sil1 Mutations and Clinical Spectrum in Patients with Marinesco-Sjogren Syndrome
(Oxford Univ Press, 2013)
Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More ...
Diffusion Mr Imaging Features Of Skull Base Osteomyelitis Compared With Skull Base Malignancy
(Amer Soc Neuroradiology, 2011)
BACKGROUND AND PURPOSE: SBO is a life-threatening infection that may have radiologic features similar to those of the neoplastic processes. The purpose of this study was to evaluate the DWI findings in SBO to facilitate ...
Fulminant Central Plus Peripheral Nervous System Demyelination Without Antibodies To Neurofascin
(Cambridge Univ Press, 2016)
Background: Combined central and peripheral nervous system demyelination is a rare and poorly described phenomenon. Recently, anti-neurofascin antibodies were reported to be positive in 86% of these patients in a Japanese ...
International Retrospective Study of the Pipeline Embolization Device: A Multicenter Aneurysm Treatment Study
(Amer Soc Neuroradiology, 2015)
BACKGROUND AND PURPOSE: Flow diverters are increasingly used in the endovascular treatment of intracranial aneurysms. Our aim was to determine neurologic complication rates following Pipeline Embolization Device placement ...
Ischemic Stroke Phenotype in Patients with Nonsustained Atrial Fibrillation
(Lippincott Williams & Wilkins, 2015)
Background and Purpose-The widespread use of ambulatory cardiac monitoring has not only increased the detection of high-risk arrhythmias like persistent and paroxysmal atrial fibrillation (AF), but also made it possible ...
Treatment Of Intracranial Aneurysms Using The Pipeline Flow-Diverter Embolization Device: A Single-Center Experience With Long-Term Follow-Up Results
(Amer Soc Neuroradiology, 2012)
BACKGROUND AND PURPOSE: Flow-diverting devices now offer a new treatment alternative for cerebral aneurysms. We present the results of a large single-center series of patients treated with the PED, including long-term ...
Effect of Clozapine on White Matter Integrity in Patients With Schizophrenia: A Diffusion Tensor Imaging Study
(Elsevier Ireland Ltd, 2014)
Several diffusion tensor imaging (DTI) studies have reported disturbed white matter integrity in various brain regions in patients with schizophrenia, whereas only a few studied the effect of antipsychotics on DTI measures. ...
Comparing Two Cut-Off Based Criteria While Investigating The Discriminatory Characteristics Of A Tablet-Based Dyscalculia Screening Battery For 5-9 Age Group
(Aves, 2018)
Introduction: Math skills are essential in academic, occupational. and scientific areas as well as in daily life activities. There are two existing models in screening dyscalculia: IQ-Achievement Discrepancy Model (DM), ...