Search Results - "RUSSELL, MICHAEL B."

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation by Hayer, Helle, Busk, Øyvind L, Esbensen, Q. Ying, Rasby, Oddveig, Hilmarsen, Hilde T, Russell, Michael B, Nyman, Tuula A, Braathen, Geir J, Nilsen, Hilde L

“…Background Aminoacyl tRNA-synthetases are ubiquitously-expressed enzymes that attach amino acids to their cognate tRNA molecules. Mutations in several genes…”
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A Norwegian population‐based study on the risk and prevalence of obstructive sleep apnea The Akershus Sleep Apnea Project (ASAP) by HRUBOS‐STRØM, HARALD, RANDBY, ANNA, NAMTVEDT, SILJE K., KRISTIANSEN, HÅVARD A., EINVIK, GUNNAR, BENTH, JŪRATĖŠALTYTĖ, SOMERS, VIREND K., NORDHUS, INGER H., RUSSELL, MICHAEL B., DAMMEN, TORIL, OMLAND, TORBJØRN, KVÆRNER, KARI J.

“…Summary The Berlin Questionnaire (BQ) is a widely used screening tool for obstructive sleep apnea (OSA), but its performance in the general population setting…”
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Comorbidity with low back pain: a cross-sectional population-based survey of 12- to 22-year-olds by Hestbaek, Lise, Leboeuf-Yde, Charlotte, Kyvik, Kirsten Ohm, Vach, Werner, Russell, Michael B, Skadhauge, Lars, Svendsen, Anders, Manniche, Claus

“…Cross-sectional, population-based survey. To investigate the pattern of comorbidity with low back pain in adolescents. Low back pain is usually dealt with as a…”
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MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families by Braathen, Geir J, Sand, Jette C, Lobato, Ana, Høyer, Helle, Russell, Michael B

“…Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate…”
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Prevalence of menstrual migraine: a population-based study by Vetvik, Kjersti G, Macgregor, E Anne, Lundqvist, Christofer, Russell, Michael B

“…To present data from a population-based epidemiological study on menstrual migraine. Altogether, 5000 women aged 30-34 years were screened for menstrual…”
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Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero by Høyer, Helle, Braathen, Geir J, Eek, Anette K, Skjelbred, Camilla F, Russell, Michael B

“…Abstract Introduction Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication…”
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An Unusual Cause of Lower Gastrointestinal Bleeding: Cecal Dieulafoy's Lesion by Dailey, Joseph, Russell, Michael B, Sterling, Mark

“…Colonic Dieulafoy’s lesions are an exceptionally rare cause of lower gastrointestinal (GI) bleeding. These lesions are almost exclusively found in the upper GI…”
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Headache in sleep apnea syndrome: epidemiology and pathophysiology by Russell, Michael B, Kristiansen, Håvard A, Kværner, Kari J

“…This review investigates the relation between obstructive sleep apnea and sleep apnea headache, migraine and tension-type headache. Focus is made on studies…”
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Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome by Braathen, Geir J, Sand, Jette C, Russell, Michael B

“…The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late…”
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Sleep apnea headache: a growing concern in an increasingly obese population? by Russell, Michael B

“…Sleep apnea headache is a recurrent universal pressing headache without accompanying symptoms at awakening that resolves within 4 h. The diagnosis requires…”
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A clinical interview versus prospective headache diaries in the diagnosis of menstrual migraine without aura by Vetvik, Kjersti G, MacGregor, E Anne, Lundqvist, Christofer, Russell, Michael B

“…The objective of this article is to compare the diagnosis of menstrual migraine without aura (MM) from a clinical interview with prospective headache diaries…”
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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing by Skjelbred, Camilla F., Russell, Michael B., Høyer, Helle, Strand, Linda, Hilmarsen, Hilde T., Svendsen, Marit, Braathen, Geir J., Busk, Øyvind L., Holla, Øystein L.

“…Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous…”
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Tu1778 High Resolution Anorectal Manometry Compared to Dynamic Pelvic Magnetic Resonance Imaging in Fecal Incontinence by Shung, Dennis, Russell, Michael B, Ryabtsev, Roman, Pahade, Jay, Huber, Steffen, Balcacer, Patricia, Sanchez, Mayra J

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A Rare Case of Waldenstrom Macroglobulinemia of the Rectosigmoid Colon by Zelman, Sara, Russell, Michael B., Hojat, Amin, Pilichowska, Monika, Olans, Lori B., Sterling, Mark J.

“…Waldenstrom macroglobulinemia is an uncommon mature B-cell lymphoma characterized by monoclonal immunoglobulin M protein in peripheral blood and…”
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Barrett's esophagus: A comprehensive review for the internist by Klavan, Heather, Russell, Michael B., Macklin, Jared, Lee, Edwin, Aslanian, Harry R., Muniraj, Thiruvengadam

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A Multicenter Study of Left Ventricular Assist Device-Related Gastrointestinal Bleeding by Dailey, Joseph, Nguyen, Long H., Kohli, Arushi, Ha, Jasmine B., Russell, Michael B., Dhingra, Rohit, Kiernan, Michael S., Thomas, Molly F., Coglianese, Erin C., Sterling, Mark J., Yacavone, Robert F., Natov, Nikola, Richter, James M.

“…Continuous left ventricular assist devices (LVADs) offer hemodynamic support in advanced and decompensated heart failure but are often complicated by…”
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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease by Braathen, Geir J, Sand, Jette C, Bukholm, Geir, Russell, Michael B

“…X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap…”
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Headache Revising secondary headache diagnostic criteria by Russell, Michael B

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Revising secondary headache diagnostic criteria by Russell, Michael B.

“…The International Classification of Headache Disorders II has undergone several revisions in attempts to meet the challenges of accurately diagnosing…”
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Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease by Skjelbred, Camilla F., Nordang, Gry B. N., Eek, Anette K., Braathen, Geir J., Høyer, Helle, Russell, Michael B.

“…Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the…”
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