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Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
Published in:
Clinical Genetics, 2016, v. 90, n. 2, p. 166, doi. 10.1111/cge.12695
By:
- Willis, T.A.;
- Wood, C.L.;
- Hudson, J.;
- Polvikoski, T.;
- Barresi, R.;
- Lochmüller, H.;
- Bushby, K.;
- Straub, V.
Publication type:
Article
A spoonful of sugar helps the KV channel activity go down.
Published in:
Journal of Physiology, 2006, v. 575, n. 3, p. 691, doi. 10.1113/jphysiol.2006.118091
By:
- Straub, Stephen V.;
- Nelson, Mark T.
Publication type:
Article
Cytosolic Ca2+ and Ca2+-activated Cl− current dynamics: insights from two functionally distinct mouse exocrine cells.
Published in:
Journal of Physiology, 2002, v. 540, n. 2, p. 469, doi. 10.1113/jphysiol.2001.013453
By:
- Giovannucci, David R.;
- Bruce, Jason I. E.;
- Straub, Stephen V.;
- Arreola, Jorge;
- Sneyd, James;
- Shuttleworth, Trevor J.;
- Yule, David I.
Publication type:
Article
EnteropathogenicEscherichia coliEspG disrupts microtubules and in conjunction with Orf3 enhances perturbation of the tight junction barrier.
Published in:
Molecular Microbiology, 2005, v. 56, n. 2, p. 447, doi. 10.1111/j.1365-2958.2005.04571.x
By:
- Tomson, Farol L.;
- Viswanathan, V. K.;
- Kanack, Kristen J.;
- Kanteti, Rajani P.;
- Straub, Kathryn V.;
- Menet, Mark;
- Kaper, James B.;
- Hecht, Gail
Publication type:
Article
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.
Published in:
2009
By:
- Garrood P;
- Hollingsworth KG;
- Eagle M;
- Aribisala BS;
- Birchall D;
- Bushby K;
- Straub V;
- Garrood, Penelope;
- Hollingsworth, Kieren G;
- Eagle, Michelle;
- Aribisala, Benjamin S;
- Birchall, Daniel;
- Bushby, Kate;
- Straub, Volker
Publication type:
journal article
Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy.
Published in:
Cardiovascular Research, 2008, v. 79, n. 4, p. 652, doi. 10.1093/cvr/cvn131
By:
- Bauer, R.;
- MacGowan, G.A.;
- Blain, A.;
- Bushby, K.;
- Straub, V.
Publication type:
Article
Older workers: an opportunity to expand the long-term care/direct care labor force.
Published in:
2008
By:
- Hwalek M;
- Straub V;
- Kosniewski K
Publication type:
Journal Article
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice.
Published in:
Gene Therapy, 2000, v. 7, n. 16, p. 1385, doi. 10.1038/sj.gt.3301247
By:
- Allamand, V;
- Donahue, K M;
- Straub, V;
- Davisson, R L;
- Davidson, B L;
- Campbell, K P
Publication type:
Article
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Published in:
2011
By:
- Hicks D;
- Sarkozy A;
- Muelas N;
- Koehler K;
- Huebner A;
- Hudson G;
- Chinnery PF;
- Barresi R;
- Eagle M;
- Polvikoski T;
- Bailey G;
- Miller J;
- Radunovic A;
- Hughes PJ;
- Roberts R;
- Krause S;
- Walter MC;
- Laval SH;
- Straub V;
- Lochmüller H
Publication type:
journal article
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 147, doi. 10.1093/brain/awn289
By:
- D. Hicks;
- A. K. Lampe;
- S. H. Laval;
- V. Allamand;
- C. Jimenez-Mallebrera;
- M. C. Walter;
- F. Muntoni;
- S. Quijano-Roy;
- P. Richard;
- V. Straub;
- H. Lochmüller;
- K. M. D. Bushby
Publication type:
Article
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
Published in:
2008
By:
- Thornhill P;
- Bassett D;
- Lochmüller H;
- Bushby K;
- Straub V;
- Thornhill, Paul;
- Bassett, David;
- Lochmüller, Hanns;
- Bushby, Kate;
- Straub, Volker
Publication type:
journal article
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Published in:
2007
By:
- Godfrey C;
- Clement E;
- Mein R;
- Brockington M;
- Smith J;
- Talim B;
- Straub V;
- Robb S;
- Quinlivan R;
- Feng L;
- Jimenez-Mallebrera C;
- Mercuri E;
- Manzur AY;
- Kinali M;
- Torelli S;
- Brown SC;
- Sewry CA;
- Bushby K;
- Topaloglu H;
- North K
Publication type:
journal article
Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.
Published in:
2010
By:
- Bauer R;
- Blain A;
- Greally E;
- Bushby K;
- Lochmüller H;
- Laval S;
- Straub V;
- Macgowan GA;
- Bauer, Ralf;
- Blain, Alison;
- Greally, Elizabeth;
- Bushby, Kate;
- Lochmüller, Hanns;
- Laval, Steve;
- Straub, Volker;
- MacGowan, Guy A
Publication type:
journal article
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Published in:
Annals of Neurology, 2010, v. 68, n. 5, p. 717, doi. 10.1002/ana.22119
By:
- Wilmshurst, J.M.;
- Lillis, S.;
- Zhou, H.;
- Pillay, K.;
- Henderson, H.;
- Kress, W.;
- Müller, C.R.;
- Ndondo, A.;
- Cloke, V.;
- Cullup, T.;
- Bertini, E.;
- Boennemann, C.;
- Straub, V.;
- Quinlivan, R.;
- Dowling, J.J.;
- Al- Sarraj, S.;
- Treves, S.;
- Abbs, S.;
- Manzur, A.Y.;
- Sewry, C.A.
Publication type:
Article
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Published in:
2004
By:
- Poppe M;
- Bourke J;
- Eagle M;
- Frosk P;
- Wrogemann K;
- Greenberg C;
- Muntoni F;
- Voit T;
- Straub V;
- Hilton-Jones D;
- Shirodaria C;
- Bushby K
Publication type:
Journal Article
Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency.
Published in:
European Journal of Neurology, 2021, v. 28, n. 2, p. 729, doi. 10.1111/ene.14588
By:
- Krett, B.;
- Straub, V.;
- Vissing, J.
Publication type:
Article
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
Published in:
European Journal of Neurology, 2020, v. 27, n. 12, p. 2604, doi. 10.1111/ene.14446
By:
- Giacomucci, G.;
- Monforte, M.;
- Diaz‐Manera, J.;
- Mul, K.;
- Fernandez Torrón, R.;
- Maggi, L.;
- Marini Bettolo, C.;
- Dahlqvist, J. R.;
- Haberlova, J.;
- Camaño, P.;
- Gros, M.;
- Tartaglione, T.;
- Cristiano, L.;
- Gerevini, S.;
- Calandra, P.;
- Deidda, G.;
- Giardina, E.;
- Sacconi, S.;
- Straub, V.;
- Vissing, J.
Publication type:
Article
Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD).
Published in:
European Journal of Neurology, 2020, v. 27, n. 11, p. 2257, doi. 10.1111/ene.14402
By:
- Fatehi, F.;
- Okhovat, A. A.;
- Nilipour, Y.;
- Mroczek, M.;
- Straub, V.;
- Töpf, A.;
- Palibrk, A.;
- Peric, S.;
- Rakocevic Stojanovic, V.;
- Najmabadi, H.;
- Nafissi, S.
Publication type:
Article
Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy.
Published in:
2019
By:
- Wood, C. L.;
- Cheetham, T. D;
- Hollingsworth, K. G;
- Guglieri, M.;
- Ailins-Sahun, Y.;
- Punniyakodi, S.;
- Mayhew, A.;
- Straub, V.
Publication type:
journal article
Local potassium signaling couples neuronal activity to vasodilation in the brain.
Published in:
Nature Neuroscience, 2006, v. 9, n. 11, p. 1397, doi. 10.1038/nn1779
By:
- Filosa, Jessica A.;
- Bonev, Adrian D.;
- Straub, Stephen V.;
- Meredith, Andrea L.;
- Wilkerson, M. Keith;
- Aldrich, Richard W.;
- Nelson, Mark T.
Publication type:
Article
Pharmacological characterization of the first in class clinical candidate PF-05190457: a selective ghrelin receptor competitive antagonist with inverse agonism that increases vagal afferent firing and glucose-dependent insulin secretion ex vivo.
Published in:
2016
By:
- Kong, J;
- Chuddy, J;
- Stock, I A;
- Loria, P M;
- Straub, S V;
- Vage, C;
- Cameron, K O;
- Bhattacharya, S K;
- Lapham, K;
- McClure, K F;
- Zhang, Y;
- Jackson, V M
Publication type:
journal article
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Published in:
Human Mutation, 2008, v. 29, n. 6, p. 809, doi. 10.1002/humu.20704
By:
- Lampe, A.K.;
- Zou, Y.;
- Sudano, D.;
- O'Brien, K.K.;
- Hicks, D.;
- Laval, S.H.;
- Charlton, R.;
- Jimenez-Mallebrera, C.;
- Zhang, R.-Z.;
- Finkel, R.S.;
- Tennekoon, G.;
- Schreiber, G.;
- van der Knaap, M.S.;
- Marks, H.;
- Straub, V.;
- Flanigan, K.M.;
- Chu, M.-L.;
- Muntoni, F.;
- Bushby, K.M.D.;
- Bönnemann, C.G.
Publication type:
Article
P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD).
Published in:
2021
By:
- Tarnopolsky, M;
- Attarian, S;
- Borges, J;
- Bouhour, F;
- Choi, Y;
- Clemens, P;
- Day, J;
- Díaz-Manera, J;
- Erdem-Ozdamar, S;
- Goker-Alpan, O;
- Illarioshkin, S;
- Kishnani, PS;
- Kostera-Pruszczyk, A;
- Kushlaf, H;
- Ladha, S;
- Mozaffar, T;
- Roberts, M;
- Straub, V;
- Toscano, A;
- van der Ploeg, AT
Publication type:
Abstract
P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD).
Published in:
2021
By:
- Tarnopolsky, M;
- Attarian, S;
- Borges, J;
- Bouhour, F;
- Choi, Y;
- Clemens, P;
- Day, J;
- Díaz-Manera, J;
- Erdem-Ozdamar, S;
- Goker-Alpan, O;
- Illarioshkin, S;
- Kishnani, PS;
- Kostera-Pruszczyk, A;
- Kushlaf, H;
- Ladha, S;
- Mozaffar, T;
- Roberts, M;
- Straub, V;
- Toscano, A;
- van der Ploeg, AT
Publication type:
Abstract

Found: 24

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.

A spoonful of sugar helps the K<sub>V</sub> channel activity go down.

Cytosolic Ca<sup>2+</sup> and Ca<sup>2+</sup>-activated Cl<sup>−</sup> current dynamics: insights from two functionally distinct mouse exocrine cells.

EnteropathogenicEscherichia coliEspG disrupts microtubules and in conjunction with Orf3 enhances perturbation of the tight junction barrier.

MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.

Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy.

Older workers: an opportunity to expand the long-term care/direct care labor force.

Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.

RYR1 mutations are a common cause of congenital myopathies with central nuclei.

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency.

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.

Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD).

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy.

Local potassium signaling couples neuronal activity to vasodilation in the brain.

Pharmacological characterization of the first in class clinical candidate PF-05190457: a selective ghrelin receptor competitive antagonist with inverse agonism that increases vagal afferent firing and glucose-dependent insulin secretion ex vivo.

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD).

P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD).