Items where Author is "Muntoni, F"

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Number of items: 34.

Article

Brown, S C and Fernandez-Fuente, M and Muntoni, F and Vissing, J (2020) Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. Journal of Neuropathology & Experimental Neurology. ISSN 1554-6578

Manole, A and Jaunmuktane, Z and Hargreaves, I and Ludtmann, M H R and Pandraud, A and Salpietro, V and Pope, S and Horga, A and Scalco, R S and Li, A and Ashokkumar, B and Lourenço, C M and Horvath, R and Chinnery, P F and Toro, C and Singleton, A B and Abramov, A Y and Muntoni, F and Hanna, F G and Reilly, M M and Revesz, T and Kullman, N D M and Jepson, J E C and Houlden, H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. BRAIN, 140 (11). pp. 2820-2837.

Lynn, S and Aartsma-Rus, A and Furlong, P and Goemans, N and De Luca, A and Mayhew, A and McDonald, C and Mercuri, E and Muntoni, F and Pohlschmidt, M and Verschuuren, J and Voit, T and Vroom, E and Wells, D J and Straub, V (2015) Measuring Clinical Effectiveness of Medicinal Products for the Treatment of Duchenne Muscular Dystrophy. Neuromuscular Disorders, 25 (1). pp. 96-105.

Fernandez-Fuente, M and Martin-Duque, P and Vassaux, G and Brown, S C and Muntoni, F and Terracciano, C M and Piercy, R J (2014) Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes. Neuromuscular Disorders, 24 (3). pp. 250-258.

Foley, A R and Pitceathly, R D S and He, J and Kim, J and Pearson, N M and Muntoni, F and Hanna, M G (2014) Whole-genome sequencing and the clinician: a tale of two cities. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 85 (9). pp. 1012-1015.

Whitmore, C and Fernandez-Fuente, M and Booler, H and Parr, C and Kavishwar, M and Ashraf, A and Lacey, E and Kim, J and Terry, R and Ackroyd, M R and Wells, K E and Muntoni, F and Wells, D J and Brown, S C (2014) The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. HUMAN MOLECULAR GENETICS, 23 (7). pp. 1842-1855.

Ross, J and Benn, A and Jonuschies, J and Boldrin, L and Muntoni, F and Hewitt, J E and Brown, S C and Morgan, J E (2012) Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Largemyd Mouse. Stem Cells, 30 (10). pp. 2330-2341.

Kim, J and Jimenez-Mallebrera, C and Foley, A R and Fernandez-Fuente, M and Brown, S C and Torelli, S and Feng, L and Sewry, C A and Muntoni, F (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders, 22 (2). pp. 139-48.

Cirak, S and Arechavala-Gomeza, V and Guglieri, M and Feng, L and Torelli, S and Anthony, K and Abbs, S and Garralda, M E and Wells, DJ and Dickson, G and Wood, M J A and Wilton, S D and Straub, V and Shrewsbury, S and Sewry, C and Morgan, J E and Bushby, K and Muntoni, F (2011) Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-esclation study. Lancet, 378 (9791). pp. 595-605.

Ackroyd, M R and Whitmore, C and Prior, S and Kalurachchi, M and Nikolic, M and Mayer, U and Muntoni, F and Brown, S C (2011) Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain. JOURNAL OF NEUROSCIENCE, 31 (36). pp. 12927-12935.

Whitmore, C and Ackroyd, M R and Ashraf, A and Alyoshkin, B and Muntoni, F and Brown, S C (2011) GENERATION OF A NEW MOUSE MODEL FOR THERAPEUTIC TESTING IN THE DYSTROGLYCANOPATHIES. Neuromuscular Disorders, 21 (9-10). p. 664.

Muntoni, F and Torelli, S and Wells, D J and Brown, S C (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Current Opinion in Neurology, 24 (5). pp. 437-442.

Brockington, M A and Torelli, S and Sharp, P S and Liu, K and Cirak, S and Brown, S C and Wells, D J and Muntoni, F (2010) Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLoS One, 5 (12). e14434.

Walmsley, G L and Arechavala-Gomeza, V and Fernandez-Fuente, M and Burke, M M and Nagel, N and Holder, A L and Stanley, R and Chandler, K E and Marks, S L and Muntoni, F and Shelton, G D and Piercy, R J (2010) A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping. PLoS One, 5 (1). e8647.

Arechavala-Gomeza, V and Kinali, M and Feng, L and Brown, S C and Sewry, C and Morgan, J E and Muntoni, F (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 36 (4). pp. 265-74.

Kinali, M and Arechavala-Gomeza, V and Feng, L and Cirak, S and Hunt, D and Adkin, C and Guglieri, M and Ashton, E and Abbs, S and Nihoyannopoulos, P and Garralda, M E and Rutherford, M and McCulley, C and Popplewell, L and Graham, I R and Dickson, G and Wood, M J and Wells, D J and Wilton, S D and Kole, R and Staub, V and Bushby, K and Sewry, C and Morgan, J E and Muntoni, F (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-esclation, proof-of-concept study. Lancet Neurology, 8 (10). pp. 918-28.

Ackroyd, M R and Skordis, L and Kaluarachchi, M and Godwin, J and Prior, S and Fidanboylu, M and Piercy, R J and Muntoni, F and Brown, S C (2009) Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. BRAIN, 132. pp. 439-451.

Jimenez-Mallebrera, C and Torelli, S and Feng, L and Kim, J and Godfrey, C and Clement, E and Mein, R and Abbs, S and Brown, S C and Campbell, K P and Kröger, S and Talim, B and Topaloglu, H and Quinlivan, R and Roper, H and Childs, A M and Kinali, M and Sewry, C A and Muntoni, F (2009) A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathology, 19 (4). pp. 596-611.

Fernandez-Fuente, M and Ames, E G and Wagner, M L and Zhou, H and Strom, M and Zammit, P S and Mickelson, J R and Muntoni, F and Brown, S C and Piercy, R J (2008) Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. AMERICAN JOURNAL OF VETERINARY RESEARCH, 69 (12). pp. 1637-1645.

Otto, A and Schmidt, C and Luke, G and Allen, S P and Valasek, P and Muntoni, F and Lawrence-Watt, D and Patel, K (2008) Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. Journal of Cell Science, 121 (17). pp. 2939-2950.

Brown, S C and Piercy, R J and Muntoni, F and Sewry, C A (2008) Investigating the pathology of Emery-Dreifuss muscular dystrophy. BIOCHEMICAL SOCIETY TRANSACTIONS, 36 (Pt 6). pp. 1335-1338.

Clement, E M and Godfrey, C and Tan, J and Brockington, M A and Torelli, S and Feng, L and Brown, S C and Jimenez-Mallebrera, C and Sewry, C A and Longman, C and Mein, R and Abbs, S and Vajsar, J and Schachter, H and Muntoni, F (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Archives of Neurology, 65 (1). pp. 137-4.

Piercy, R J and Zhou, H Y and Feng, L and Pombo, A and Muntoni, F and Brown, S C (2007) Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 17 (4). pp. 297-305.

Amthor, H and Macharia, R and Navarrete, R and Schuelke, M and Brown, S C and Otto, A and Voit, T and Muntoni, F and Vrbova, G and Partridge, T and Zammit, P and Bunger, L and Patel, K (2007) Lack of myostatin results in excessive muscle growth but impaired force generation. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 104 (6). pp. 1835-1840.

Muntoni, F and Bonne, G and Goldfarb, L G and Mercuri, E and Piercy, R J and Burke, M and Ben Yaou, R and Richard, P and Recan, D and Shatunov, A and Sewry, C A and Brown, S C (2006) Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. BRAIN, 129. pp. 1260-1268.

Mercuri, E and Brown, S C and Nihoyannopoulos, P and Poulton, J and Kinali, M and Richard, P and Piercy, R J and Messina, S and Sewry, C and Burke, M M and McKenna, W and Bonne, G and Muntoni, F (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. MUSCLE & NERVE, 31 (5). pp. 602-609.

Conference or Workshop Item

Rivas, E and Vissing, J and Scoto, M and Fernandez-Fuente, M and Voit, T and Muntoni, F and Brown, S C (2014) PHENOTYPIC HETEROGENEITY OF THE C.919T > A FKRP GENE MUTATION IN HUMANS AND A MOUSE MODEL. In: UNSPECIFIED.

Whitmore, C and Booler, H and Parr, C and Ackroyd, M R and Fernandez-Fuente, M and Muntoni, F and Wells, D and Brown, S C (2012) ASSESSING THE LONG TERM EXPRESSION OF LARGE AS A POTENTIAL THERAPY IN A MOUSE MODEL OF LGMD2I. In: UNSPECIFIED.

Whitmore, C and Booler, H and Terry, R and Ashraf, A and Parr, C and Ackroyd, M R and Fernandez-Fuente, M and Muntoni, F and Wells, D J and Brown, S C (2012) ASSESSING THE THERAPEUTIC POTENTIAL OF LARGE IN A MOUSE MODEL FOR THE LIMB GIRDLE MUSCULAR DYSTROPHIES. In: UNSPECIFIED.

Whitmore, C and Ackroyd, M R and Muses, S and Ashraf, A and Muntoni, F and Brown, S C and Wells, D J (2011) ASSESSING THE THERAPEUTIC POTENTIAL OF LARGE IN A NEW MOUSE MODEL OF DYSTROGLYCANOPATHY. In: UNSPECIFIED.

Fernandez-Fuente, M and Terracciano, C M and Pilsworth, R and Muntoni, F and Brown, S C and Piercy, R J (2011) CHARACTERISATION OF SARCOPLASMIC RETICULUM CALCIUM RELEASE IN EQUINE AND HUMAN MYOTUBES DERIVED FROM MYOD-TRANSFORMED FIBROBLASTS. In: UNSPECIFIED.

Cirak, S and Arechavala-Gomeza, V and Guglieri, M and Feng, L and Torelli, S and Anthony, K and Garralda, M E and Wells, D J and Dickson, G and Wood, M J A and Wilton, S D and Straub, V and Shrewsbury, S B and Sewry, C and Morgan, J E and Bushby, K and Muntoni, F (2011) EXON SKIPPING AND DYSTROPHIN RESTORATION IN DUCHENNE MUSCULAR DYSTROPHY PATIENTS AFTER SYSTEMIC PHOSPHORODIAMIDATE MORPHOLINO OLIGOMER TREATMENT. In: UNSPECIFIED.

Ackroyd, M R and Whitmore, C and Nikolic, M and Mayer, U and Muntoni, F and Brown, S C (2011) NOVEL INSIGHT IN MUSCLE AND BRAIN INVOLVEMENT IN DYSTROGLYCANOPATHIES. In: UNSPECIFIED.

Muntoni, F and Brown, S and Sewry, C and Patel, K (2002) Muscle development genes: their relevance in neuromuscular disorders. In: UNSPECIFIED.

This list was generated on Thu Dec 2 07:18:03 2021 GMT.