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Toplam kayıt 36, listelenen: 11-20
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 ...
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 ...
Diagnostic Accuracy of the Constructive Interference in Steady State Sequence Alone for Follow-Up Imaging of Vestibular Schwannomas
(Amer Soc Neuroradiology, 2009)
BACKGROUND AND PURPOSE: Vestibular schwannoma (VS) is a benign, slow-growing tumor, and radiologic monitoring is an acceptable alternative to surgery in small lesions and in elderly patients, MR imaging with contrast is ...
Distal Middle Cerebral Artery Aneurysms - Endovascular Treatment Results With Literature Review
(Edizioni Centauro, 2002)
Intracranial aneurysms of the distal intracranial arteries are uncommon lesions which are difficult to treat with surgical techniques. Distal middle cerebral artery (MCA) aneurysms constitute approximately 5% of all MCA ...
Hyperform Balloon-Assisted Endovascular Neck Bypass Technique To Perform Balloon Or Stentassisted Treatment Of Cerebral Aneurysms
(Amer Soc Neuroradiology, 2007)
We describe a technique to bypass aneurysm neck using the HyperForm balloon to perform balloon- or stent-assisted enclovascular treatment of complex large or giant aneurysms with very wide neck in which other methods would ...
Automated Discrimination of Psychotropic Drugs in Mice Via Computer Vision-Based Analysis
(Elsevier Science Bv, 2009)
We developed an inexpensive computer vision-based method utilizing an algorithm which differentiates drug-induced behavioral alterations. The mice were observed in an open-field arena and their activity was recorded for ...
Estrogen And Aging Affect Synaptic Distribution Of Phosphorylated Lim Kinase (Plimk) In Ca1 Region Of Female Rat Hippocampus
(Pergamon-Elsevier Science Ltd, 2008)
17 beta-Estradiol (E) increases axospinous synapse density in the hippocampal CA1 region of young female rats, but not in aged rats. This may be linked to age-related alterations in signaling pathways activated by synaptic ...
Generalised Periodic Epileptiform Discharges: Clinical Features, Neuroradiological Evaluation And Prognosis In 37 Adult Patients
(W B Saunders Co Ltd, 2003)
Generalised periodic epileptiform discharges (GPEDs) are very rare patterns and are classified as periodic short-interval diffuse discharges (PSIDDs), periodic long-interval diffuse discharges (PLIDDs) and suppression-burst ...