Results 71 to 80 of about 3,572 (228)

Feeding problems in merosin deficient congenital muscular dystrophy [PDF]

Archives of Disease in Childhood, 1999
Feeding difficulties were assessed in 14 children (age range 2-14 years) with merosin deficient congenital muscular dystrophy, a disease characterised by severe muscle weakness and inability to achieve independent ambulation. Twelve of the 14 children were below the 3rd centile for weight.
J, Philpot, A, Bagnall, C, King, V, Dubowitz, F, Muntoni   +4 more
openaire   +2 more sources

Exercise, cognition and Alzheimer’s disease: More is not necessarily better [PDF]

, 2005
Regional hypoperfusion, associated with a reduction in cerebral metabolism, is a hallmark of Alzheimer’s disease (AD) and contributes to cognitive decline. Cerebral perfusion and hence cognition can be enhanced by exercise.
Adlard, Alessi, Anton, Attwell, Baumbach, Bierman, Carmeliet, Chen, Chen, Churchill, Cohen, Colcombe, Cooke, Corder, Cott, Critchley, Cumming, Daley, De la Torre, Dick Swaab, Diesfeldt, Dubelaar, Eldridge, Endres, Erik Scherder, Farkas, Fedele, Fernández-Vizarra, Folstein, Fratiglioni, Friedman, Graham, Guigoz, Hamel, Harkany, Hayward, Hellström, Herrmann, Herrmann, Hoffman, Huang, Hönigfeld, Iadecola, Ide, Ide, Ide, Jagust, Johnson, Jørgensen, Katz, Keller, Kivipelto, Koike, Koistinaho, Kubes, Kurosawa, Launer, Laura Eggermont, Lawton, Lazowski, Lehtovirta, Liesi, Lijnen, Lindenmuth, MacRae, Martel, Matsuda, Matsuda, Maxwell, Melchor, Meltzer, Meyer, Miklossy, Monji, Morgan, Moro, Mulder, Muldowney, Nagahama, Nagai, Nakajima, Namazi, Naso, Palleschi, Palmer, Parihar, Paul Luiten, Petersen, Plutchik, Pober, Pott, Powell, Prager, Prunell, Raven, Reiman, Reitan, Rolland, Roth, Salehi, Scherder, Schini-Kerth, Selley, Skoog, Smith, Sobel, Spinler, Srikiatkhachorn, Suzuki, Swaab, Swaab, Swaab, Swain, Tappen, Tappen, Teri, Tinetti, Tong, Tong, Tsolaki, Tucker, Tucker, Ueda, Ushijima, Van de Winckel, Van Dyck, Van Gelder, Wang, Warkentin, Wechsler, Wechsler, Weller, Wenk, Whelton, White, Wilson, Wolf, Zarit   +137 more
core   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

BMC Neurology, 2018
Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta, Beril Talim, Gulsev Kale, Pervin Dincer   +3 more
doaj   +1 more source

Using Multiple Anthropomorphic Measures to Estimate Height in Muscular Dystrophies and Its Impact on Lung Function

Pediatric Pulmonology, Volume 60, Issue 1, January 2025.
ABSTRACT Background An accurate height estimate is important for assessing pulmonary function, and body mass index. If a patient cannot stand, an accurate standing height cannot be directly measured. Knee‐heel length, arm span, ulnar length, and tibial length have been studied in otherwise healthy populations as single measurements for height ...
Kayleen Whitley, Elizabeth Spoede, Glenn Moore, Harold J. Farber   +3 more
wiley   +1 more source

MR imaging of pelvic and thigh muscles in congenital muscular dystrophy

The Turkish Journal of Pediatrics, 2001
To define and compare the magnetic resonance (MR) imaging findings of pelvic and thigh muscles in merosin-deficient and merosin-positive congenital muscular dystrophy, 10 patients with merosin-positive and six patients with merosin-deficient ...
A Oto, U Aydingöz, N Başgün, B Talim, E Karaağaoğlu, H Topaloğlu   +5 more
doaj  

Distrofias musculares congénitas

Revista Médica Clínica Las Condes, 2018
Resumen: Las distrofias musculares congénitas (DMC) son enfermedades musculares hereditarias muy heterogéneas. Su diagnóstico se basa en criterios histológicos (signos distróficos en músculo) y clínicos (de inicio neonatal o durante la infancia precoz ...
Susana Quijano-Roy, MD, PhD, Marta Gómez-Garcia de la Banda, MD   +1 more
doaj   +1 more source

The Ras antagonist, farnesylthiosalicylic acid (FTS), decreases fibrosis and improves muscle strength in dy/dy mouse model of muscular dystrophy. [PDF]

PLoS ONE, 2011
The Ras superfamily of guanosine-triphosphate (GTP)-binding proteins regulates a diverse spectrum of intracellular processes involved in inflammation and fibrosis.
Yoram Nevo, Shlomit Aga-Mizrachi, Edva Elmakayes, Nurit Yanay, Keren Ettinger, Moran Elbaz, Zivia Brunschwig, Oshrat Dadush, Galit Elad-Sfadia, Roni Haklai, Yoel Kloog, Joab Chapman, Shimon Reif   +12 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

Internal medicine, 2017
A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy.
A. Kubota, H. Ishiura, J. Mitsui, K. Sakuishi, A. Iwata, Tomotaka Yamamoto, I. Nishino, S. Tsuji, J. Shimizu   +8 more
semanticscholar   +1 more source