Results 201 to 210 of about 321,114 (362)

Sensory Nerve Action Potential Analysis in a Cohort of Patients With Spinal Muscular Atrophy Aged 12 Years and Older

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Survival Motor Neuron 1 (SMN1)‐related spinal muscular atrophy (SMA) is characterized by α‐motor neuron degeneration, with sensory function assumed to be clinically preserved. However, recent studies in severely affected patients and animal models have challenged this view.
Leandra A. A. Ros, Boudewijn T. H. M. Sleutjes, H. Stephan Goedee, Fay‐Lynn Asselman, Inge Cuppen, Ruben P. A. van Eijk, W. Ludo van der Pol, Renske I. Wadman   +7 more
wiley   +1 more source

The Testis in Myotonic Muscular Dystrophy: A Clinical and Pathologic Study with a Comparison with the Klinefelter Syndrome1 [PDF]

, 1963
William D. Drucker, William A. Blanc, Lewis P. Rowland, Melvin M. Grumbach, Nicholas P. Christy   +4 more
openalex   +1 more source

Myostatin Knockout Mice Have Larger Muscle Fibers With Normal Function and Morphology

Muscle &Nerve, EarlyView.
ABSTRACT Introduction We assessed whether muscle fibers in myostatin knockout (MSTN−/−) mice are just larger or also exhibit morphological, metabolic, and functional differences from MSTN+/+ mice. Methods We compared single fiber contractile properties and histological fiber properties in muscles from MSTN−/− and MSTN+/+ mice.
Hans Degens, Ketan Patel, A. Matsakas
wiley   +1 more source

The Frank Vectorcardiogram and the Electrocardiogram in Duchenne Progressive Muscular Dystrophy [PDF]

, 1967
Charles W. Fitch, Lorin E. Ainger
openalex   +1 more source

An Expanded Access Protocol of RNS60 in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Aims RNS60 is an investigational product in clinical development for amyotrophic lateral sclerosis (ALS). RNS60 slowed disease progression in the ALS SOD1G93A mouse model and was safe and well tolerated both in an open‐label pilot study and a randomized, placebo‐controlled, multicenter phase 2 trial in people living with ALS.
Grace Addy, Erica Scirocco, Dario Gelevski, Margot Rohrer, Aimee Roderick, Mary McCormack, Anat Weiss Sadan, Jennifer Scalia, Neil Parikh, Elisa Giacomelli, Matteo Locatelli, Dylan V. Neel, Derek D'Agostino, Alex Leite, Hong Yu, Alexander V. Sherman, Jarrad Mock, Andreas Kalmes, Sarah Luppino, Suma Babu, James Berry, Merit Cudkowicz, Sabrina Paganoni   +22 more
wiley   +1 more source

Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double‐blind, placebo‐controlled trial

European Journal of Neurology, Volume 30, Issue 1, Page 69-86, January 2023., 2023
Abstract Background and purpose Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options. RNS60 is an immunomodulatory and neuroprotective investigational product that has shown efficacy in animal models of ALS and other neurodegenerative diseases. Its administration has been safe and well tolerated in ALS
Ettore Beghi, Elisabetta Pupillo, Elisa Bianchi, Valentina Bonetto, Silvia Luotti, Laura Pasetto, Caterina Bendotti, Massimo Tortarolo, Francesca Sironi, Laura Camporeale, Alexander V. Sherman, Sabrina Paganoni, Ada Scognamiglio, Fabiola De Marchi, Paolo Bongioanni, Renata Del Carratore, Claudia Caponnetto, Luca Diamanti, Daniele Martinelli, Andrea Calvo, Massimiliano Filosto, Alessandro Padovani, Stefano Cotti Piccinelli, Claudia Ricci, Stefania Dalla Giacoma, Nicoletta De Angelis, Maurizio Inghilleri, Rossella Spataro, Vincenzo La Bella, Giancarlo Logroscino, Christian Lunetta, Claudia Tarlarini, Jessica Mandrioli, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Maria Rosaria Monsurrò, Dario Ricciardi, Francesca Trojsi, Nilo Riva, Massimo Filippi, Isabella Laura Simone, Gianni Sorarù, Cristina Spera, Lucia Florio, Sonia Messina, Massimo Russo, Gabriele Siciliano, Amelia Conte, Maria Valeria Saddi, Nicola Carboni, Letizia Mazzini, the RNS60‐ALS Study Group, Gabriele Enia, Andrea Zucchella, Lorenzo Pinzani, Lorena De Giorgi, Celeste Nicoletti, Elisa Semprucci, Emilio Davide Arippol, Giorgia Giussani, Monica Graziani, Cinzia Ferrari, Roberto Cantello, Enrica Bersano, Cristina Dolciotti, Silvia Maria Masciandaro, Ilaria Da Prato, Corrado Cabona, Giuseppe Meo, Mauro Ceroni, Beatrice Dal Fabbro, Adriano Chiò, Cristina Moglia, Umberto Manera, Giuseppe Fuda, Federico Casale, Giovanni De Marco, Paolina Salamone, Fabio Giannini, Silvia Bocci, Marco Ceccanti, Chiara Cambieri, Laura Libonati, Federica Moret, Vittorio Frasca, Tiziana Coletti, Rosanna Tortelli, Rosa Capozzo, Francesca Gerardi, Valeria Sansone, Nicola Fini, Giulia Gianferrari, Annalisa Gessani, Yuri Falzone, Paride Schito, Laura Pozzi, Teuta Domi, Eustachio D’Errico, Antonella Morea, Gianmarco Milella, Matteo Gizzi, Francesca Paci, Simonetta Ferracchiato, Michele Zarrelli, Nino Desina, Alessandra Govoni, Erika Schirinzi, Costanza Simoncini, Mario Sabatelli, Daniela Bernardo, Giulia Bisogni, Giovanna Piras, Maria Monne, Elisabetta Manca   +114 more
wiley   +1 more source

HISTOCHEMICAL STUDIES ON HUMAN MUSCULAR DYSTROPHY [PDF]

, 1961
M. Nelly Golarz, Geoffrey H. Bourne, Hollie Richardson   +2 more
openalex   +1 more source

Current Classification of Canine Muscular Dystrophies and Identification of New Variants. [PDF]

Genes (Basel), 2023
Shelton GD, Minor KM, Friedenberg SG, Cullen JN, Guo LT, Mickelson JR.   +5 more
europepmc   +1 more source

The Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Muscle biopsy performed to investigate weakness and/or pain may be nondiagnostic and prompt repeat biopsy. We determined the indications and yield of rebiopsy. Methods Patients who underwent > 1 muscle biopsy (South Australia, 2000–2023) were identified.
Thomas Khoo, Sarah Saxon, Barbara Koszyca, Bernice Gutschmidt, Vidya Limaye   +4 more
wiley   +1 more source

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

European Journal of Neurology, Volume 30, Issue 1, Page 215-223, January 2023., 2023
Abstract Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases.
Joana Garmendia, Garazi Labayru, Miren Zulaica, Jorge Villanúa, Adolfo López de Munain, Andone Sistiaga   +5 more
wiley   +1 more source