Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Sami I. Harik"'
Autor:
Sami I. Harik, Susan J. Hayflick, Mark A. Tarnopolsky, Nardo Nardocci, Cyril Mignot, John Hardy, Thomas Meitinger, Giovanna Zorzi, Tobias B. Haack, Lynn Sanford, Allison Gregory, Eleanna Kara, Steven Skinner, Penelope Hogarth, Elisabeth Graf, Delphine Héron, Nathalie Boddaert, Henry Houlden, Era Hanspal, Steven J. Frucht, Thomas Wieland, Esther Meyer, Manju A Kurian, Holger Prokisch, Michael C. Kruer, Barbara Garavaglia, Thomas Schwarzmayr, Connie Schrander-Stumpel, Stephan M. Cuno, Kailash P. Bhatia, Vasuki Dandu, Tim M. Strom, Todd Dunaway
Publikováno v:
The American Journal of Human Genetics; Vol 91
The American Journal of Human Genetics
Am. J. Hum. Genet. 91, 1144-1149 (2012)
The American Journal of Human Genetics
Am. J. Hum. Genet. 91, 1144-1149 (2012)
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller s
Publikováno v:
J Cereb Blood Flow Metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96786462a5af01b95426139c06dd6283
https://europepmc.org/articles/PMC7370358/
https://europepmc.org/articles/PMC7370358/
Autor:
Nancy Maalouf, Sami I. Harik
Publikováno v:
Neurology. 78:366-369
A 33-year-old woman with history of occasional “migraines” complained of severe occipital headache, following an uncomplicated full-term vaginal delivery under epidural anesthesia. This headache was qualitatively and quantitatively different from
Publikováno v:
Neuropathology. 29:280-284
Fragile X tremor/ataxia syndrome (FXTAS) occurs in individuals with moderate CGG expansion of the fragile X mental retardation 1 (FMR1) gene and is associated with intranuclear inclusions in neurons and astrocytes. Although the neuropathologic findin
Publikováno v:
Neurology. 68:1843-1850
Background: The number of bariatric procedures is rapidly growing as the prevalence of obesity in the USA is increasing. Such procedures are not without complications, and those affecting the nervous system are often disabling and irreversible. We no
Autor:
Salah G. Keyrouz, Nicolas Bianchi, Debra M Johnson, Shadi Yaghi, Archana Hinduja, Sami I. Harik
Publikováno v:
Journal of telemedicine and telecare. 21(7)
Background and Purpose Telemedicine offers rural hospitals the ability to treat acute ischemic stroke on site with intravenous tissue plasminogen activator (t-PA). Most patients are subsequently transferred to a hub hospital with a primary stroke cen
Publikováno v:
Clinical Neuropharmacology. 26:207-212
Animal studies indicate that beta(2)-adrenergic receptor agonists enhance transport of levodopa across the blood-brain barrier. Preliminary studies showed improved response to levodopa in patients with Parkinson disease (PD) who were given albuterol
Autor:
Sajini Mathew, Guido Tricot, Lija Joseph, Athanasios Fassas, David S. Siegel, Rajesh Sethi, Sami I. Harik, Christopher J. Morris, Amir A. Toor, Maurizio Zangari, Elias Anaissie, Firas Muwalla, Tanya Berryman, Edgardo J. Angtuaco, Carla S. Wilson, Riad Benramdane, Bart Barlogie, Raman Desikan, Ashraf Badros, Aubrey J. Hough
Publikováno v:
British Journal of Haematology. 117:103-108
Involvement of the central nervous system (CNS) by multiple myeloma, as defined by the detection of malignant plasma cells in the cerebrospinal fluid in the presence of suggestive symptoms, is considered extremely rare. We report on the characteristi
Publikováno v:
Movement Disorders. 17:54-59
We sought to determine whether β-adrenergic agonists enhance the brain extraction of L-dopa and L-leucine. Systemic administration of β-adrenergic agonists increase brain concentrations of L-dopa and other large neutral amino acids (LNAA) in rats a
Publikováno v:
Alzheimer Disease & Associated Disorders. 21:262-264
Few women with Fragile X tremor ataxia syndrome (FXTAS) have been reported. They have milder manifestations at a later age than men. This gender difference may be related to the X inactivation pattern in women. We describe a woman who presented to he