Results 61 to 70 of about 198,800 (341)

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

A fresh look at paralytics in the critically ill: real promise and real concern. [PDF]

, 2012
Neuromuscular blocking agents (NMBAs), or "paralytics," often are deployed in the sickest patients in the intensive care unit (ICU) when usual care fails.
Kenyon, Nicholas J, Price, David, Stollenwerk, Nicholas   +2 more
core   +2 more sources

Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F. Brandsema, Claudio Bruno, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, for the Givinostat Study 51 Investigators, the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators, the ImagingDMD Investigators, Enrico Bertini, Giacomo Pietro Comi, Eugenio Maria Mercuri, Giuseppe Vita, Sonia Messina, Claudio Bruno, Riccardo Masson, Valeria Sansone, Nathalie Goemans, Liesbeth De Waele, Laurent Servais, Teresa Gidaro, Odile Boespflug‐Tanguy, Yann Péréon, Jessika Johannsen, Astrid Blaschek, Ulrike Schara‐Schmidt, Erik Niks, Imelda de Groot, Saskia Houwen‐van Opstal, Andres Nascimento, Juan Jesus Vilchez, Nuria Muelas, Francina Munell, Marcos Madruga Garrido, Mercedes Lopez Lobato, Michaela Guglieri, Tracey Willis, Stefan Spinty, Daniel Hawcutt, Mariacristina Scoto, Jean K. Mah, Laura McAdam, Kathryn Selby, Katherine Mathews, Craig McDonald, Craig Zaidman, Barry Byrne, John Brandsema, Gyula Acsadi, Chamindra Laverty, Amy Harper, Erika Finanger, Han Phan, Yoram Nevo, Vedrana Milic Rasic, Dragana Vucinic   +74 more
wiley   +1 more source

Challenges Faced by Women With Neuromuscular Diseases When Having to Urinate Away From Home

Global Qualitative Nursing Research
The aim of this study was to investigate the challenges women with neuromuscular disease face when having to urinate when away from home. The design for this study was qualitative using the interpretive description methodology and the Sense of Coherence ...
Charlotte Handberg, Bente Kristensen, Bente Thoft Jensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Ulla Werlauff   +6 more
doaj   +1 more source

A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice [PDF]

, 2014
Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with
Douni, E, Eliopoulos, E, Fasseas, C, Ioakeimidis, F, Kollias, G, Kozjak-Pavlovic, V, Makrinou, E, Ott, C, Rinotas, V, Violitzi, F   +9 more
core   +1 more source

Durability of Response to B‐Cell Maturation Antigen‐Directed mRNA Cell Therapy in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We report the 12‐month follow‐up outcomes from a Phase 2 clinical trial (NCT04146051) evaluating Descartes‐08, a BCMA‐directed RNA chimeric antigen receptor T‐cell (rCAR‐T) therapy for refractory generalized myasthenia gravis (MG).
Nizar Chahin, Gregory Sahagian, Marc H. Feinberg, C. Andrew Stewart, Christopher M. Jewell, Metin Kurtoglu, Miloš D. Miljković, Tuan Vu, Tahseen Mozaffar, James F. Howard Jr, the MG‐001 Study Group   +10 more
wiley   +1 more source

Late-Onset Pompe Disease with Nemaline Bodies

Case Reports in Neurological Medicine, 2018
Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system.
E. Frezza, C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, R. Massa   +5 more
doaj   +1 more source

A 2 years prospective evaluation study on onabotulinumtoxinA 195 U in chronic migraine [PDF]

, 2015
Background: OnabotulinumtoxinA (Botox®) is the first and so far the only treatment to receive a specific license for prevention of chronic migraine (CM). In our Headache Clinic the therapy with onabotulinumtoxinA is routinely administered to CM patients
D'Alonzo, Lidia, LALA, NOEMI, MARTELLETTI, Paolo, NEGRO, ANDREA   +3 more
core   +2 more sources

Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García, H. Stephan Goedee, Leonard H. van den Berg, Boudewijn T. H. M. Sleutjes   +3 more
wiley   +1 more source

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Orphanet Journal of Rare Diseases, 2021
Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19.
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian   +44 more
doaj   +1 more source