Results 51 to 60 of about 2,421,984 (303)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 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

Cardiac Manifestations of Neuromuscular Disease

, 2021
Neuromuscular diseases are a group of complex multisystem disorders that commonly and prominently affect striated muscle. Cardiac involvement in neuromuscular diseases namely conduction disorders, ventricular arrhythmias and cardiomyopathy with its ...
Russo V., Papa A. A., Nigro G.
core  

Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases [PDF]

, 2016
MicroRNAs (miRNAs) are small 21–24 nucleotide RNAs that are capable of regulating multiple signaling pathways across multiple tissues. MicroRNAs are dynamically regulated and change in expression levels during periods of early development, tissue ...
Alexander, Matthew S., Kunkel, Louis
core   +1 more source

EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases

, 2022
Introduction: Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation.
Renata Oliveira Almeida Menezes, Fernandes, Isabella Araujo Mota, Guilhermina Rego, Menezes, Renata Oliveira Almeida, Isabella Araujo Mota Fernandes, Rego, Guilhermina   +5 more
core   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 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

Belgian neuromuscular diseases registry, information brochure for patients, 2020

, 2020
Neuromuscular diseases are rare diseases but are affecting more than 250 000 people in Europe. Together we can make a difference. Join us!
M. Jagut, M. Cosyns
core  

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source