Results 51 to 60 of about 32,083 (123)
, 2022 Tese de Mestrado, Biologia Evolutiva e do Desenvolvimento, 2022, Universidade de Lisboa, Faculdade de CiênciasA matriz extracelular (MEC) é uma complexa rede acelular presente em todos os tecidos e fornece um suporte físico para as células. Embora a sua
Ribeiro, Vanessa Filipa Laranjeiro
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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 +1 more
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Understanding the mechanisms at the onset of LAMA2- congenital muscular dystrophy
, 2023 Tese de mestrado, Biologia Molecular e Genética, 2023, Universidade de Lisboa, Faculdade de CiênciasLAMA2-congenital muscular dystrophy (LAMA2-CMD) is characterized by muscle weakness and hypotonia present at birth and, currently, no treatment or cure ...
Cavaco, Cláudia Sofia Paulino
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The impact of Lama2-deficiency on cell cycle regulation and survival
, 2021 Tese de Mestrado, Biologia Molecular e Genética, 2022, Universidade de Lisboa, Faculdade de CiênciasLaminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD) is caused by recessive mutations in the LAMA2 gene.
Melo, Catarina Elisa Mineiro de
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Potential therapies and biomarkers for LAMA2-CMD. Does the microRNA hype deliver?
, 2018 Laminin α2 chain-deficient muscular dystrophy, or LAMA2-CMD, is a very severe disease caused by mutations in the LAMA2 gene. Skeletal muscle is the most affected tissue, with patients presenting symptoms such as hypotonia at birth, joint contractures and
Moreira Soares Oliveira, Bernardo
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The Application of Clinical Genetics, 2019 Quynh Nguyen,*,1 Kenji Rowel Q Lim,*,1 Toshifumi Yokota,1,21Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada; 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada,
Nguyen Q, Lim KRQ, Yokota T
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Understanding how LAMA2 deficiency impacts organ homeostasis
Tese de mestrado, Biologia Evolutiva e do Desenvolvimento, 2024, Universidade de Lisboa, Faculdade de CiênciasLAMA2-congenital muscular dystrophy (LAMA2-CMD) is a neuromuscular disease which manifests itself from birth and is caused by mutations in the ...
Pita, Mafalda Cristina Sanganha
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, 2014 Digital image processing (DIP) technique has been growing rapidly as an essential tool to interpret various image features for many applications of science and engineering.
Aljohani, O. +3 more
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, 2014 Frequency response analysis (FRA) has become a widely accepted tool to detect power transformer winding deformation due to the development of FRA test equipment.
Abu-Siada, Ahmed +3 more
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, 2013 OBJECTIVE: To expand the clinical and molecular spectrum of LAMA2 gene mutations, suggesting the classification of adulthood cases as a separate form of LGMD, which should be defined as LGMD2R. BACKGROUND: Mutations in LAMA2 gene, encoding laminin-α2,
S. Brajkovic +10 more
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