Results 71 to 80 of about 3,092 (251)

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
core   +4 more sources

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

Promoting differentiation of cultured myoblasts using biomimetic surfaces that present alpha-laminin-2 peptides. [PDF]

, 2016
Traditionally, muscle cell lines are cultured on glass coverslips and differentiated to investigate myoblast fusion and differentiation. Efficient differentiation of myoblasts produces a dense network of myotubes with the correct organisation for ...
Parker, F, Peckham, M, Phillips, S, White, K   +3 more
core   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 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

Epilepsy, epileptiform discharges and features of brain magnetic resonance imaging in merosin-deficient muscular dystrophy

Эпилепсия и пароксизмальные состояния
Background. Merosin-deficient muscular dystrophy (MDMD) is a neuromuscular disease resulting from the emergence of biallelic variants in the LAMA2 gene and manifested by progressive muscle weakness, diffuse hypotonia, impaired posture, contractures of ...
A. V. Monakhova, E. D. Belousova, Z. K. Gorchkhanova   +2 more
doaj   +1 more source

Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET

Therapeutic Advances in Endocrinology and Metabolism, 2019
The laminin subunit alpha 2 (LAMA2) gene encodes an alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin).
Ruo-Qiang Wang, Yu-Long Lan, Jia-Cheng Lou, Yi-Zhu Lyu, Yu-Chao Hao, Qian-Fei Su, Bin-Bin Ma, Zhong-Bo Yuan, Zhi-Kuan Yu, Hong-Qiang Zhang, Dong-Sheng Wang, Ting-Zhun Zhu, Yan Ding, Ning Zhang, Bo Zhang   +14 more
doaj   +1 more source

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

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

Midbrain and Hindbrain Involvement in Lissencephaly

Pediatric Neurology Briefs, 2009
Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France,
J Gordon Millichap
doaj   +1 more source