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Toplam kayıt 133, listelenen: 41-50
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 ...
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 ...
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 ...