نتایج جستجو برای: disease pmd

تعداد نتایج: 1491086  

2013
Michele Hooper Deborah Wenkert Bojena Bitman Virgil C Dias Yessenia Bartley

BACKGROUND Malignancy risk may be increased in chronic inflammatory conditions that are mediated by tumor necrosis factor (TNF), such as juvenile idiopathic arthritis (JIA), but the role of TNF in human cancer biology is unclear. In response to a 2011 United States Food & Drug Administration requirement of TNF blocker manufacturers, we evaluated reporting rates of all malignancies in patients =...

2012
Prasert Akkaramongkolporn Tanasait Ngawhirunpat Praneet Opanasopit

Purpose: To evaluate a weakly cationic exchange poly(methacrylic acid-co-divinylbenzene) resin (PMD) as a new filler-binder for direct compression tablets. Methods: Powder properties of PMD and MCC were characterized. Tablets made from PMD and MCC with and without propranolol hydrochloride were evaluated for diameter, thickness, friability, assay, disintegration, dissolution and compression beh...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2010
Bijan Pesaran Matthew J Nelson Richard A Andersen

Spatial computations underlying the coordination of the hand and eye present formidable geometric challenges. One way for the nervous system to simplify these computations is to directly encode the relative position of the hand and the center of gaze. Neurons in the dorsal premotor cortex (PMd), which is critical for the guidance of arm-reaching movements, encode the relative position of the ha...

Journal: :AJNR. American journal of neuroradiology 2003
Francesca Pizzini Ali S Fatemi Peter B Barker Lidia M Nagae-Poetscher Alena Horská Andrew W Zimmerman Hugo W Moser Genila Bibat Sakkubai Naidu

BACKGROUND AND PURPOSE Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD. METHODS Three boys with PMD (one with the severe connatal form and two wi...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
Kristi Clark Lauren Sakowski Karen Sperle Linda Banser Carlisle P Landel Denise A Bessert Robert P Skoff Grace M Hobson

Pelizaeus-Merzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid protein 1 gene (PLP1), which is located on the X chromosome and encodes the most abundant protein of myelin in the central nervous sytem. Approximately 60% of PMD cases result from genomic duplications of a region of the X chromosome that includes the entire PLP1 gene. The duplications ...

2005
PAUL B. SZANTO

The course of primary myocardial disease (PMD) was observed in 39 alcoholics. After initial examination 3 years or more before this report, we classified the severity of each patient's illness as stage I, II, or III. Stage I patients had minimal symptoms and normal-sized hearts. Stage II patients had evidence of concentric left ventricular hypertrophy and clinical manifestations like those of h...

2000
T. Sawaguchi

Like the striatum, the frontal motor cortices receive dopaminergic ®bers from midbrain dopamine cells and contain high levels of dopamine receptors. Among frontal cortical areas, the dorsolateral PFC (PFd1) and the dorsal premotor cortex (PMd) have strong neural connections and play a major role for working memory-guided directional movements. To reveal the role of dopamine in this cognitive mo...

Journal: :Cell 2007
Jennifer A. Lee Claudia M.B. Carvalho James R. Lupski

The prevailing mechanism for recurrent and some nonrecurrent rearrangements causing genomic disorders is nonallelic homologous recombination (NAHR) between region-specific low-copy repeats (LCRs). For other nonrecurrent rearrangements, nonhomologous end joining (NHEJ) is implicated. Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused most frequently (60%-70%) by non...

Journal: :Molecular genetics and metabolism 2016
Kathryn M Camp Danuta Krotoski Melissa A Parisi Katrina A Gwinn Bruce H Cohen Christine S Cox Gregory M Enns Marni J Falk Amy C Goldstein Rashmi Gopal-Srivastava Gráinne S Gorman Stephen P Hersh Michio Hirano Freddie Ann Hoffman Amel Karaa Erin L MacLeod Robert McFarland Charles Mohan Andrew E Mulberg Joanne C Odenkirchen Sumit Parikh Patricia J Rutherford Shawne K Suggs-Anderson W H Wilson Tang Jerry Vockley Lynne A Wolfe Steven Yannicelli Philip E Yeske Paul M Coates

In December 2014, a workshop entitled "Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base" was convened at the NIH with the goals of exploring the use of nutritional interventions in primary mitochondrial disorders (PMD) and identifying knowledge gaps regarding their safety and efficacy; identifying research opportunities; and forging collaborations among ...

Journal: :Journal of neurophysiology 2008
A Suppa M Bologna F Gilio C Lorenzano J C Rothwell A Berardelli

Short trains of suprathreshold 5-Hz repetitive transcranial magnetic stimulation (rTMS) over primary motor cortex (M1) evoke motor potentials (MEPs) in hand muscles that progressively increase in amplitude via a mechanism that is thought to be similar to short-term potentiation described in animal preparations. Long trains of subthreshold rTMS over dorsal premotor cortex (PMd) are known to affe...

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