SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Autor: Kathryn J Swoboda, Charles B Scott, Thomas O Crawford, Louise R Simard, Sandra P Reyna, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan L Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, John T Kissel, Project Cure Spinal Muscular Atrophy Investigators Network

Publikováno v: PLoS ONE, Vol 5, Iss 8, p e12140 (2010)

Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo.Two cohorts of subjects were enrolled in the SMA CARNIVAL TRIAL, a non-ambulatory group of "sitters" (cohort 1) and an am

Externí odkaz: https://doaj.org/article/2a5f3943a1fe48acb839ca7db24528ca

Sialorrhea in Amyotrophic Lateral Sclerosis

Autor: Mark B. Bromberg

Publikováno v: Respiratory Symptoms ISBN: 0190098899

Sialorrhea can be defined as pooling of saliva due to inefficient swallowing. In amyotrophic lateral sclerosis (ALS), weakness and poor coordination of cheek and tongue muscles and muscles involved with swallowing prevent clearing the 1-plus quarts o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cbf163570b8551fa4c96a54b8311c1b
https://doi.org/10.1093/med/9780190098896.003.0017

Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Autor: Michael Pulley, Mikko Kuoppamäki, Carolyn A Young, Jesus S. Mora Pardina, Kumaraswamy Sivakumar, Toni Sarapohja, Michael A. Elliott, Chafic Karam, Sandeep Rana, Orla Hardiman, Nathan P. Staff, Letizia Mazzini, Gabriele Mora, Thomas F. Meyer, Colleen O'Connell, Stéphanie Delstanche, Elham Bayat, Michael D. Weiss, Waqar Waheed, Nenad Mitrovic, Philippe Corcia, Marie-Hélène Soriani, Edward J. Kasarskis, Claudia Caponnetto, Dale J. Lange, Tuan Vu, Leo McCluskey, Berthold Schrank, Angela Genge, Matthew C. Kiernan, Valtteri V Aho, Manu Jokela, Philip Van Damme, Juan F. Vázquez Costa, Maurizio Inghilleri, Wolfgang Löscher, David Schultz, Tero Tapiola, Susanne Petri, Adriano Chiò, Gary L. Pattee, Julian Großkreutz, Ammar Al-Chalabi, Aziz Shaibani, Susan Mathers, Kevin J. Felice, Kimberly Goslin, James Caress, Matthias Boentert, Albert C. Ludolph, Aleksandar Radunovic, Robert D. Henderson, James Wymer, Todd Levine, Jakob Rath, Merrilee Needham, William Camu, Gaurav Guliani, Rune Johansson, Leonard H. van den Berg, Namita Goyal, Mark B. Bromberg, Bjorn Oskarsson, Annie Dionne, Eduardo Locatelli, Brent T. Harris, Suma Babu, Richard Bedlack, John Ravits, Jinsy A. Andrews, Philippe Couratier, Gabriele Siciliano, Hannu Laaksovirta, Kourosh Rezania, Lawrence Korngut, Eduardo Aguera Morales, Peter M Andersen, Eva Farrero Munoz, David Lacomis, Stephen N. Scelsa, Chris Garratt, Matthew Burford, Merit Cudkowicz, Nicholas J. Maragakis, Wendy Johnston, Martin M. Brown, Johannes Prudlo, Justin Y. Kwan, Dominic B. Fee, Senda Ajroud-Driss, Stephen A. Goutman, John Turnbull, Michael H. Rivner, Timothy M. Miller, Jan De Bleecker, Caroline Ingre, Luis Varona, Genevieve Matte, Daragh Heitzman, Robert Untucht, Lorne Zinman, Adam Quick, Jonathan S. Katz

Publikováno v: The Lancet Neurology. 20:821-831

Summary Background There is an urgent unmet need for new therapies in amyotrophic lateral sclerosis. In a clinical study with healthy volunteers, levosimendan, a calcium sensitiser, was shown to improve neuromechanical efficiency and contractile func

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e159b8bed1a737713c1c2f5bf0a571
https://doi.org/10.1016/s1474-4422(21)00242-8

Pathogenic Effect ofTP73Gene Variants in People With Amyotrophic Lateral Sclerosis

Autor: Joshua L. Bonkowsky, Spyridoula Tsetsou, Jerry A. Duran, L. Charles Murtaugh, Karla P. Figueroa, Kristi L. Russell, Mark B. Bromberg, Summer Gibson, Stefan M. Pulst, Matthew D. Keefe, Jonathan M. Downie, Lynn B. Jorde

Publikováno v: Neurology. 97:e225-e235

ObjectiveTo identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we used sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified inTP73.MethodsWe analyzed exome se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54e965063455a60d78fd589eb5814976
https://doi.org/10.1212/wnl.0000000000012285

MFN2 Influences Amyotrophic Lateral Sclerosis Pathology

Autor: Cody J. Steely, Mark B. Bromberg, Kristi L. Russell, Lynn B. Jorde, Karla P. Figueroa, Stefan M. Pulst, Summer Gibson, Jonathan M. Downie, L. Charles Murtaugh

ObjectiveTo better understand the pathology of amyotrophic lateral sclerosis, we used sequence data from patients seen at the University of Utah to identify novel disease-associated loci. We utilized both in vitro and in vivo studies to determine the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dedbcc85e85837bc4c0241f54f9c6ca6
https://doi.org/10.1101/2021.10.30.466517