Search Results - "STATLAND, Jeffrey"

Risk of functional impairment in Facioscapulohumeral muscular dystrophy by Statland, Jeffrey M., Tawil, Rabi

“…ABSTRACT Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies. Nevertheless, little is known about the…”
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Facioscapulohumeral Muscular Dystrophy by Statland, Jeffrey M., Tawil, Rabi

“…This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). FSHD…”
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Review of the Diagnosis and Treatment of Periodic Paralysis by Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.

“…ABSTRACT Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs…”
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Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy by Katz, Natalie K, Hogan, John, Delbango, Ryan, Cernik, Colin, Tawil, Rabi, Statland, Jeffrey M

“…Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies characterized by considerable variability in severity, rates of…”
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Facioscapulohumeral muscular dystrophy: the road to targeted therapies by Tihaya, Mara S., Mul, Karlien, Balog, Judit, de Greef, Jessica C., Tapscott, Stephen J., Tawil, Rabi, Statland, Jeffrey M., van der Maarel, Silvère M.

“…Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigenetic de-repression of the…”
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Primary lateral sclerosis: consensus diagnostic criteria by Turner, Martin R, Barohn, Richard J, Corcia, Philippe, Fink, John K, Harms, Matthew B, Kiernan, Matthew C, Ravits, John, Silani, Vincenzo, Simmons, Zachary, Statland, Jeffrey, van den Berg, Leonard H, Mitsumoto, Hiroshi

“…Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome,…”
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Facioscapulohumeral Muscular Dystrophy by Statland, Jeffrey, MD, Tawil, Rabi, MD

“…Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation…”
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Reply: Wheelchair use in genetically-confirmed FSHD1 from a large cohort study in Chinese population by Katz, Natalie K, Hogan, John, Delbango, Ryan, Cernik, Colin, Tawil, Rabi, Statland, Jeffrey M

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Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis by Statland, Jeffrey M., MD, Barohn, Richard J., MD, McVey, April L., MD, Katz, Jonathan S., MD, Dimachkie, Mazen M., MD

“…When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of…”
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Rasagiline for amyotrophic lateral sclerosis: A randomized, controlled trial by Statland, Jeffrey M., Moore, Dan, Wang, Yunxia, Walsh, Maureen, Mozaffar, Tahseen, Elman, Lauren, Nations, Sharon P., Mitsumoto, Hiroshi, Fernandes, J. Americo, Saperstein, David, Hayat, Ghazala, Herbelin, Laura, Karam, Chafic, Katz, Jonathan, Wilkins, Heather M., Agbas, Abdulbaki, Swerdlow, Russell H., Santella, Regina M., Dimachkie, Mazen M., Barohn, Richard J., Barohn, Richard J., Swerdlow, Russell, Wang, Yunxia, Statland, Jeffrey, Dimachkie, Mazen M., Glenn, Melanie, Pasnoor, Mamatha, Walsh, Maureen, Emmons, Kelley, Johns, Kathryn, Harness, Yolanda, Herbelin, Laura, Katz, Jonathan, Miller, Robert G, Forshew, Dallas, Engel, Marguerite, Mozaffar, Tahseen, Goyal, Namita, Cash, Tiyonnoh, Mathew, Veena, Martin, Veronica, Saperstein, David, Levine, Todd, Flynne, Lynn, Karam, Chafic, Dimtrov, Diana, Elman, Lauren, McCluskey, Leo, Almasy, Kelly, Kelley, Mary, Fernandes, J. Americo M., Thaisetthawatkul, Pariwat, Peterson, Carolyn, Cowardin, Cindy, Heires, Peggy, Nations, Sharon, Trivedi, Jaya, Gorham, Nina F., Hopkins, Steve, Hayat, Ghazala, Brown, Susan, Mitsumoto, Hiroshi, Aziz‐Zaman, Sonya, Hupf, Jonathan, Armstrong, Nicole, McHale, Brittany, Wilkins, Heather, Agbas, Abdulbaki, Sage, Jessica, Hall, Sharice, Santella, Regina, Gurvich, Irina, Amato, Anthony, Bedlack, Richard, Jackson, Carlayne, Cutter, Gary, Wolfe, Gil, Simpson, Ericka

“…ABSTRACT Introduction: Rasagiline is a monoamine oxidase B (MAO‐B) inhibitor with possible neuroprotective effects in patients with amyotrophic lateral…”
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Guidelines on clinical presentation and management of nondystrophic myotonias by Stunnenberg, Bas C., LoRusso, Samantha, Arnold, W. David, Barohn, Richard J., Cannon, Stephen C., Fontaine, Bertrand, Griggs, Robert C., Hanna, Michael G., Matthews, Emma, Meola, Giovanni, Sansone, Valeria A., Trivedi, Jaya R., van Engelen, Baziel G.M., Vicart, Savine, Statland, Jeffrey M.

“…The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in…”
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Longitudinal course of neurofilament light chain levels in amyotrophic lateral sclerosis—insights from a completed randomized controlled trial with rasagiline by Witzel, Simon, Statland, Jeffrey M., Steinacker, Petra, Otto, Markus, Dorst, Johannes, Schuster, Joachim, Barohn, Richard J., Ludolph, Albert C.

“…Background and purpose Rasagiline might be disease modifying in patients with amyotrophic lateral sclerosis (ALS). The aim was to evaluate the effect of…”
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FSHD1 or FSHD2: That is the question: The answer: Itʼs all just FSHD by Johnson, Nicholas E, Statland, Jeffrey M

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A pilot study of the responsiveness of wireless motion analysis in facioscapulohumeral muscular dystrophy by Statland, Jeffrey M., Karanevich, Alex, Bruetsch, Adam, Huisinga, Jessie

“…Introduction We determined whether instrumenting timed functional tasks with wireless inertial motion sensors were responsive to facioscapulohumeral muscular…”
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Non‐dystrophic myotonia: 2‐year clinical and patient reported outcomes by Fullam, Timothy R., Chandrashekhar, Swathy, Farmakidis, Constantine, Jawdat, Omar, Pasnoor, Mamatha, Dimachkie, Mazen M., Statland, Jeffrey M.

“…Introduction/Aims Consistency of differences between non‐dystrophic myotonias over time measured by standardized clinical/patient‐reported outcomes is lacking…”
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial by Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I. A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O’Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, McMillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

“…IMPORTANCE: Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen…”
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Self‐reported reduced sleep quality and excessive daytime sleepiness in facioscapulohumeral muscular dystrophy by Hoffmann, Heloise M., Malo‐Juvera, Victor, Statland, Jeffrey M.

“…Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) causes weakness and secondary associations, such as respiratory complications and pain, that…”
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Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials by Stunnenberg, Bas C, Raaphorst, Joost, Groenewoud, Hans M, Statland, Jeffrey M, Griggs, Robert C, Woertman, Willem, Stegeman, Dick F, Timmermans, Janneke, Trivedi, Jaya, Matthews, Emma, Saris, Christiaan G. J, Schouwenberg, Bas J, Drost, Gea, van Engelen, Baziel G. M, van der Wilt, Gert Jan

“…IMPORTANCE: In rare diseases it is difficult to achieve high-quality evidence of treatment efficacy because of small cohorts and clinical heterogeneity. With…”
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A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A by Attarian, Shahram, Young, Peter, Brannagan, Thomas H, Adams, David, Van Damme, Philip, Thomas, Florian P, Casanovas, Carlos, Kafaie, Jafar, Tard, Céline, Walter, Maggie C, Péréon, Yann, Walk, David, Stino, Amro, de Visser, Marianne, Verhamme, Camiel, Amato, Anthony, Carter, Gregory, Magy, Laurent, Statland, Jeffrey M, Felice, Kevin

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is a rare, orphan, hereditary neuromuscular disorder with no cure and for which only symptomatic treatment is…”
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Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia by Fullam, Timothy, Statland, Jeffrey

“…Following the exclusion of potentially reversible causes, the differential for those patients presenting with a predominant upper motor neuron syndrome…”
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