نتایج جستجو برای: canavan

تعداد نتایج: 211  

2015
Gilbert E. Franco

Citation: Franco GE (2015) Supervision and MFT burnout: overcoming the challenges therapists face in the workplace. Most of us know that feeling. As we lay in our beds we close our eyes, but no matter how hard we try, we can't stop thinking about that one client. We ask ourselves whether we could have prevented them from going into crisis and threatening to commit suicide. We wonder whether hav...

Journal: :Brain research 1998
H Yagi I Akiguchi A Ohta N Yagi M Hosokawa T Takeda

The role of the magnocellular reticular formation (MGRF) of the brainstem on learning and memory was examined in memory-deficient mice with spontaneous spongy degeneration in the brainstem (senescence-accelerated mouse, SAMP8) and control mice (accelerated-senescence resistant mouse, SAMR 1). SAMP8 showed spontaneous age-related impairment of learning and memory, as determined by passive and ac...

2001
PATRICK C. KENNEDY STEVEN A. RUTLEDGE WALTER A. PETERSEN V. N. BRINGI

Analyses are made of the evolution of selected polarimetric radar data fields during periods immediately preceding the onset of near-surface hail indicators [high reflectivity and low differential reflectivity (Zdr)] in two nonsupercellular northeastern Colorado hailstorms. The primary data were obtained from the 11-cm-wavelength, dual-polarization Colorado State University (CSU)–University of ...

Journal: :The Journal of pharmacology and experimental therapeutics 2005
Raji Mathew Peethambaran Arun Chikkathur N Madhavarao John R Moffett M A Aryan Namboodiri

Canavan disease (CD) is a fatal genetic neurodegenerative disorder caused by mutations in the gene for aspartoacylase, an enzyme that hydrolyzes N-acetylaspartate (NAA) into L-aspartate and acetate. Because aspartoacylase is localized in oligodendrocytes, and NAA-derived acetate is incorporated into myelin lipids, we hypothesize that an acetate deficiency in oligodendrocytes is responsible for ...

Journal: :American journal of medical genetics. Part A 2012
Amy L Barczykowski Alexander H Foss Patricia K Duffner Li Yan Randy L Carter

Leukodystrophies (LD) and lysosomal storage disorders (LSD) have generated increased interest recently as targets for newborn screening programs. Accurate epidemiological benchmarks are needed in the U.S. Age-specific mortality rates were estimated for Krabbe disease (KD) and nine related disorders. U.S. mortality records with E75.2 cause of death code during 1999-2004 were collected from 11 op...

Journal: :AJNR. American journal of neuroradiology 1991
F S Sandhu W P Dillon

The mitochondrial encephalomyopathies are a heterogeneous group of disorders characterized by mitochondrial dysfunction that produce multisystem symptoms. This disorder affects both the central and peripheral nervous systems, skeletal muscles, heart, endocrine glands, gastrointestinal tract, hematopoietic system, and kidneys (Table 1) [1]. Patients with mitochondrial encephalomyopathy can be di...

Journal: :Progress in neurobiology 2007
John R Moffett Brian Ross Peethambaran Arun Chikkathur N Madhavarao Aryan M A Namboodiri

The brain is unique among organs in many respects, including its mechanisms of lipid synthesis and energy production. The nervous system-specific metabolite N-acetylaspartate (NAA), which is synthesized from aspartate and acetyl-coenzyme A in neurons, appears to be a key link in these distinct biochemical features of CNS metabolism. During early postnatal central nervous system (CNS) developmen...

Journal: :Human molecular genetics 1997
A P Shuber L A Michalowsky G S Nass J Skoletsky L M Hire S K Kotsopoulos M F Phipps D M Barberio K W Klinger

As more mutations are identified in genes of known sequence, there is a crucial need in the areas of medical genetics and genome analysis for rapid, accurate and cost-effective methods of mutation detection. We have developed a multiplex allele-specific diagnostic assay (MASDA) for analysis of large numbers of samples (> 500) simultaneously for a large number of known mutations (> 100) in a sin...

2013
Patrick M. Long Scott W. Tighe Heather E. Driscoll John R. Moffett Aryan M. A. Namboodiri Mariano S. Viapiano Sean E. Lawler Diane M. Jaworski

Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme responsible for NAA catalysis to generate acetate and ultimately acetyl-Coenzyme A for histone acetylation, are reduced in oligodendroglioma. T...

2008
B. Rockstroh

A multi-channel recording was used to comprehensively examine the topography of the PINV and topographical differences between CNV and PINV in schizophrenic patients and healthy controls: Scalp amplitude and scalp laplacian ICSD} maps of the terminal CNV ItCNVj and PINV, and the time course of the PINV aver four post-imperative intervals (1.0-3.0s after the imperative stimulus) were compared. C...

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