Results 61 to 70 of about 258 (116)

Additional file 1 of Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

, 2023
Additional file 1: Fig. S1. PGC1α protein expression analysis in muscle samples. Western blot and densitometry analysis. Error bars represent standard error of the mean (SEM)
Oihane Jaka (10793664), Garazi Guembelzu (17127319), Ana Aiastui (4786989), Mónica Zufiria (17127322), Andrea Valls (17127316), Anabel Rico (8886593), Adolfo López de Munain (3534185), Margarita Azpitarte (375784), Amets Sáenz (17127325)   +8 more
core   +1 more source

Additional file 2 of Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

, 2023
Additional file 2: Fig. S2. Mitochondrial function in myoblasts and in myotubes at day 10 of differentiation. Mitochondrial function A in myoblasts and B in myotubes at day 10 of differentiation. Basal respiration, maximal respiration, ATP Production and
Oihane Jaka (10793664), Garazi Guembelzu (17127319), Ana Aiastui (4786989), Mónica Zufiria (17127322), Andrea Valls (17127316), Anabel Rico (8886593), Adolfo López de Munain (3534185), Margarita Azpitarte (375784), Amets Sáenz (17127325)   +8 more
core   +1 more source

Additional file 3 of Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

, 2023
Additional file 3: Fig. S3. Glycolytic function in myoblasts and in myotubes at day 10 of differentiation. Glycolytic function analyzed A in myoblasts and B in myotubes at day 10 of differentiation.
Oihane Jaka (10793664), Garazi Guembelzu (17127319), Ana Aiastui (4786989), Mónica Zufiria (17127322), Andrea Valls (17127316), Anabel Rico (8886593), Adolfo López de Munain (3534185), Margarita Azpitarte (375784), Amets Sáenz (17127325)   +8 more
core   +1 more source

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients [PDF]

, 2019
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD).
Faber, Karin, Jan B. Kuks, Coo, R. de, Ginjaar, I., Leroy ten Dam, Hoogendijk, JE, van der Kooi, AJ, Westra, Dineke, Esther Brusse, Niks, E.H., Wim H.J.P. Linssen, Niks, EH, Ginjaar, I, Kuks, Jan B., Nicol Voermans, Voermans, N, Fock, A, Straathof, CS, van de Pol, L, Linssen, W, Jessica E. Hoogendijk, Straathof, C.S., de Coo, René, Kuks, JB, Frankhuizen, W.S., Verrips, A, Niks, Erik H., van der Pol, Ludo, Linssen, W.H.J.P., Verrips, Aad, Voermans, N., Westra, D, Fock, Annemarie, Dam, L. ten, Visser, M, Brusse, E., de Visser, Marianne, René de Coo, Voermans, Nicol, Ieke Ginjaar, Visser, M. de, Erik H. Niks, Faber, K, Ludo van der Pol, Marianne de Visser, Faber, K., Pol, L. van der, Wendy S. Frankhuizen, Frankhuizen, Wendy S., Hoogendijk, J.E., Anneke J. van der Kooi, Brusse, Esther; id_orcid, van der Kooi, Anneke J., ten Dam, Leroy, Fock, A., Hoogendijk, Jessica E., Frankhuizen, WS, Annemarie Fock, Karin Faber, Coo, IFM, Aad Verrips, Linssen, Wim H. J. P., Kooi, A.J. van der, Straathof, Chiara S., Dineke Westra, Brusse, Esther, Chiara S. Straathof, Kuks, J.B., Dam, L, Ginjaar, Ieke, Verrips, A., Westra, D.   +71 more
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A New Approach to Modeling LGMDR1: Pyrvinium-Treated capn3b crispant Zebrafish

Abstract The lack of an accurate animal model for LGMDR1 is a major obstacle to therapeutic development. While murine models do not replicate the human gene expression profile, zebrafish offers a promising alternative.
Ruiz-Roldán Cristina, Valls Andrea, Immanuel Jenita, De Santis Flavia, Fernández-Torrón Roberto, López de Munain Adolfo, Saenz Amets   +6 more
openaire   +1 more source

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey

, 2021
Background: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years.
Kooi, A.J. van der, de Visser, M., van Koningsbruggen, Silvana, Koningsbruggen, S. van, Ginjaar, I.B., Duyvenvoorde, H.A. van, van Duyvenvoorde, Hermine A., van der Kooi, Anneke J., Dam, L. ten, ten Dam, L., Ginjaar, Ieke B., Visser, M. de   +11 more
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IL-32 in limb-girdle muscular dystrophy LGMDR1-calpain 3 related: A Pilot Study on Its Role as a Biomarker

Abstract In LGMDR1-Calpain-3 related, as in all muscular dystrophies, clinical trial monitoring remains a challenge due to the lack of reliable biomarkers. This study assessed IL-32 concentrations in both serum and urine, uncovering a marked increase in patients compared to healthy controls.
Jenita Immanuel, Andrea Valls, Cristina Ruiz, Juan José Poza, Patricia Garay-Albizuri, Roberto Fernández-Torrón, Adolfo López de Munain, Amets Sáenz   +7 more
openaire   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Species-specific titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy 2A

, 2019
International audienceLimb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (CAPN3). Previous experiments using adeno-associated viral (AAV) vector-mediated calpain 3 gene transfer
Deschamps, Jack-Yves, Faivre, Marine, Bourg, Nathalie, Lostal, William, Roudaut, Carinne, Elbeck, Zaher, Richard, Isabelle, Suel, Laurence, Corre, Guillaume, Smith, John Edward, Li, Xidan, Knöll, Ralph, Gohlke, Jochen, Granzier, Henk, Best, Heather, Charton, Karine   +15 more
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LIMB-GIRDLE MUSCULAR DYSTROPHY: ALTERNATIVE DIAGNOSTICS AND GENE THERAPY EVALUATION

Limb-girdle muscular dystrophy (LGMD) is a neuromuscular disorder clinically characterized by progressive proximal muscle wasting leading to significant loss of ambulation. There are 29 different subtypes (most inherited in an autosomal recessive pattern)
Gaynor, Alison R
core   +1 more source