Results 91 to 100 of about 11,019 (198)

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

BMC Medical Genomics, 2008
Background It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). Multiplex ligation-dependent probe amplification (
Reichert Jennifer G, Nakamine Alisa, Cohen Ninette, Goldsmith Juliet E, Edelmann Lisa, Cai Guiqing, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D   +13 more
doaj   +1 more source

Fronto-striatal cognitive deficits at different stages of Parkinson's disease [PDF]

, 1992
Groups of patients with idiopathic Parkinson's disease, either medicated or unmedicated, were compared with matched groups of normal controls on a computerized battery previously shown to be sensitive to frontal lobe dysfunction, including tests of ...
James, M., Lange, Klaus W., Leigh, P. N., Marsden, C. D., Owen, A. M., Quinn, N. P., Robbins, T. W., Summers, B. A.   +7 more
core   +1 more source

Canavan disease: An Arab scenario

Gene, 2015
The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with Jewish ancestry, and with low frequency in non-Jewish patients.
openaire   +4 more sources

Neurosurgical gene therapy for central nervous system diseases

Neurotherapeutics
Viral vector mediated gene therapies for neurodegenerative and neurodevelopmental conditions that require neurosurgical administration continue to expand.
Ruchit V. Patel, Pranav Nanda, R. Mark Richardson   +2 more
doaj   +1 more source

Vol. 19 no. 2 Semester 2 (2008) [PDF]

, 2008
https://researchonline.nd.edu.au/in_principio2000s/1001/thumbnail ...

core   +1 more source

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice. [PDF]

Glia, 2023
Hull VL, Wang Y, Wang Y, Burns T, Sternbach S, Gong S, McDonough J, Guo F, Borodinsky LN, Pleasure D.   +9 more
europepmc   +1 more source

Lung function, symptoms and inflammation during exacerbations of non-cystic fibrosis bronchiectasis: a prospective observational cohort study. [PDF]

, 2015
Exacerbations of non-cystic fibrosis bronchiectasis cause significant morbidity but there are few detailed data on their clinical course and associated physiological changes.
Brill, SE, Brown, JS, Hurst, JR, Mackay, AJ, Patel, AR, Singh, R   +5 more
core  

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials

Neurotherapeutics
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic, Yedda Li, Yi Gong, Florian Eichler   +3 more
doaj   +1 more source

Effects of Endocardial Microwave Energy Ablation [PDF]

, 2005
Until recently the treatment of atrial fibrillation (AF) consisted primarily of palliation, mostly in the form of pharmacological intervention. However because of recent advances in nonpharmacologic therapies, the current expectation of patients and ...
Aquilino, Hurlé, Damián, Sánchez-Quintana, Siew Yen, Ho, Vicente, Climent   +3 more
core  

On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event. [PDF]

Eur J Hum Genet, 2023
Das R.
europepmc   +1 more source