Results 81 to 90 of about 159,025 (352)

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

Case Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave   +3 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p [PDF]

, 1996
powerful tool to advance the identi®cation of gene com-Despite rapid progress in the physical characteriza- plexes and of disease genes. In this respect, the analysis tion of murine and human genomes, little molecular in- of human chromosomes 16 and 19 ...
Baer, K, Jockusch, H, Korthaus, D, Lengeling, A, Ronsiek, M, Wedemeyer, N, Wuttke, M   +6 more
core   +2 more sources

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Neuronal involvement in muscular atrophy

Frontiers in Cellular Neuroscience, 2014
The innervation of skeletal myofibers exerts a crucial influence on the maintenance of muscle tone and normal operation. Consequently, denervated myofibers manifest atrophy, which is preceded by an increase in sarcolemma permeability.
Bruno Alejandro Cisterna, Christopher eCardozo, Christopher eCardozo, Juan C Saez, Juan C Saez   +4 more
doaj   +1 more source

RWD164 The Impact of Spinal Muscular Atrophy (SMA) Type 1 on Caregivers in Taiwan: Results of a Global Survey [PDF]

, 2023
Anish Patel, K. H. Yang, W. Toro, Omar Dabbous, Yuh‐Jyh Jong   +4 more
openalex   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Complex regional pain syndrome in a competitive athlete and regional osteoporosis assessed by dual-energy X-ray absorptiometry: a case report. [PDF]

, 2014
Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive determination of regional bone fragility and fracture risk, as well as muscular atrophy and ...
Hind, K, Johnson, MI
core   +2 more sources

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source