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Toplam kayıt 187, listelenen: 91-100
Results of the Combined Treatment of Pediatric Intraspinal Tumors
(Stockton Press, 1992)
In this article 98 patients with paediatric intraspinal tumours are presented. All were evaluated according to their ages, sex, signs and symptoms. The patients also had radiological and histopathological studies; and the ...
Ultrasonographic Evaluation Of Sciatic Nerves In Patients With Spinal Cord Injury
(Nature Publishing Group, 2015)
Study design: Cross-sectional, controlled study. Objective: To evaluate the sciatic nerves of subjects with spinal cord injury (SCI) by using ultrasound (US) imaging and to explore whether US measurements are associated ...
Pediatric Multiple Sclerosis Clinical Features and Outcome
(Lippincott Williams & Wilkins, 2016)
Multiple sclerosis (MS) in children manifests with a relapsing-remitting MS (RRMS) disease course. Acute relapses consist of new neurologic deficits persisting greater than 24 hours, in the absence of intercurrent illness, ...
Risk Of Recurrence After Drug Withdrawal in Childhood Epilepsy
(W B Saunders Co Ltd, 2009)
Objectives: After a reasonable seizure-free period, discontinuation of antiepileptic drugs (AED) is usually decided in epileptic patients despite the risk of seizure recurrence. In children, risk of recurrence after ...
The Myopathic Form Of Coenzyme Q10 Deficiency Is Caused By Mutations In The Electron-Transferring-Flavoprotein Dehydrogenase (Etfdh) Gene
(Oxford Univ Press, 2007)
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic ...
Mutations In Cln7/Mfsd8 Are A Common Cause Of Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
(Oxford Univ Press, 2009)
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather ...
Refining Genotype - Phenotype Correlations in Muscular Dystrophies with Defective Glycosylation of Dystroglycan
(Oxford Univ Press, 2007)
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of ...
A Comparative Study of Alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests That The Hypoglycosylation of Alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity
(Wiley, 2009)
Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood ...
Occidental Type Cerebromuscular Dystrophy - A Report Of 11 Cases
(British Med Journal Publ Group, 1991)
Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle ...
Proton Mr Spectroscopy: Higher Right Anterior Cingulate N-Acetylaspartate/Choline Ratio in Asperger Syndrome Compared with Healthy Controls
(Amer Soc Neuroradiology, 2007)
BACKGROUND AND PURPOSE: One former study reported higher prefrontal N-acetylaspartate (NAA) levels in patients with Asperger syndrome (AS). The objective of the current study was to test the hypothesis that patients with ...