Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
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Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Atorvastatin Induced Erythrocytes Membrane Blebbing
Rana, Rumaisa Bashir, Jilani, Kashif, Shahid, Muhammad, Riaz, Muhammad, Ranjha, Mazhar Hussain, Bibi, Ismat, Asghar, Asma, Irfan, Muhammad
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Published in Dose-response (01.07.2019)
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Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy
Lostal, William, Bartoli, Marc, Roudaut, Carinne, Bourg, Nathalie, Krahn, Martin, Pryadkina, Marina, Borel, Perrine, Suel, Laurence, Roche, Joseph A, Stockholm, Daniel, Bloch, Robert J, Levy, Nicolas, Bashir, Rumaisa, Richard, Isabelle
Published in PloS one (29.05.2012)
Published in PloS one (29.05.2012)
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem, Mahjneh, Ibrahim, Marconi, Giampiero, Passos-Bueno, Maria Rita, Moreira, Eloisa de S, Zatz, Mayana, Beckmann, Jacques S
Published in Nature genetics (01.09.1998)
Published in Nature genetics (01.09.1998)
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Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B
Patel, Pryank, Harris, Richard, Geddes, Stella M., Strehle, Eugen-Matthias, Watson, James D., Bashir, Rumaisa, Bushby, Katharine, Driscoll, Paul C., Keep, Nicholas H.
Published in Journal of molecular biology (20.06.2008)
Published in Journal of molecular biology (20.06.2008)
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Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation
Vafiadaki, E, Reis, A, Keers, S, Harrison, R, Anderson, L V, Raffelsberger, T, Ivanova, S, Hoger, H, Bittner, R E, Bushby, K, Bashir, R
Published in Neuroreport (05.03.2001)
Published in Neuroreport (05.03.2001)
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Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p
Bashir, Rumaisa, Keers, Sharon, Strachan, Tom, Passos-Bueno, Rita, Zatz, Mayana, Weissenbach, Jean, Le Paslier, Denis, Meisler, Miriam, Bushby, Kate
Published in Genomics (San Diego, Calif.) (01.04.1996)
Published in Genomics (San Diego, Calif.) (01.04.1996)
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A new distal myopathy with mutation in anoctamin 5
Mahjneh, Ibrahim, Jaiswal, Jyoti, Lamminen, Antti, Somer, Mirja, Marlow, Gareth, Kiuru-Enari, Sari, Bashir, Rumaisa
Published in Neuromuscular disorders : NMD (01.12.2010)
Published in Neuromuscular disorders : NMD (01.12.2010)
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Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study
Mahjneh, Ibrahim, Bashir, Rumaisa, Kiuru-Enari, Sari, Linssen, Wim, Lamminen, Antti, Visser, Marianne de
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
Brockington, M, Yuva, Y, Prandini, P, Brown, S C, Torelli, S, Benson, MA, Herrmann, R, Anderson, LVB, Bashir, R, Burgunder, J-M, Fallet, S, Romero, N, Fardeau, M, Muntoni, F
Published in Human molecular genetics (01.12.2001)
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Published in Human molecular genetics (01.12.2001)
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C
BROCKINGTON, Martin, YUVA, Yeliz, FALLET, Shari, ROMERO, Norma, FARDEAU, Michel, STRAUB, Volker, STOREY, Gillian, POLLITT, Christine, RICHARD, Isabelle, SEWRY, Caroline A, BUSHBY, Kate, VOIT, Thomas, PRANDINI, Paola, BLAKE, Derek J, MUNTONI, Francesco, BROWN, Susan C, TORELLI, Silvia, BENSON, Matthew A, HERRMANN, Ralf, ANDERSON, Louise V. B, BASHIR, Rumaisa, BURGUNDER, Jean-Marc
Published in Human molecular genetics (01.12.2001)
Published in Human molecular genetics (01.12.2001)
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Dysferlin Deficiency Shows Compensatory Induction of Rab27A/Slp2a That May Contribute to Inflammatory Onset
Kesari, Akanchha, Fukuda, Mitsunori, Knoblach, Susan, Bashir, Rumaisa, Nader, Gustavo A, Rao, Deepak, Nagaraju, Kanneboyina, Hoffman, Eric P
Published in The American journal of pathology (01.11.2008)
Published in The American journal of pathology (01.11.2008)
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Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect
Jaiswal, Jyoti K., Marlow, Gareth, Summerill, Gillian, Mahjneh, Ibrahim, Mueller, Sebastian, Hill, Maria, Miyake, Katsuya, Haase, Hannelore, Anderson, Louise V. B., Richard, Isabelle, Kiuru‐Enari, Sari, McNeil, Paul L., Simon, Sanford M., Bashir, Rumaisa
Published in Traffic (Copenhagen, Denmark) (01.01.2007)
Published in Traffic (Copenhagen, Denmark) (01.01.2007)
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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development
Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Young, Carol, Cullen, Michael J., Walsh, John, Johnson, Margaret A., Bashir, Rumaisa, Britton, Stephen, Keers, Sharon, Argov, Zohar, Mahjneh, Ibrahim, Fougerousse, Françoise, Beckmann, Jacques S., Bushby, Kate M. D.
Published in Human molecular genetics (01.05.1999)
Published in Human molecular genetics (01.05.1999)
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Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B
Storch, Maria, Burkhardt, Elke, Moss, Jennifer A, Ivanova, Silva, Reis, André, Harrison, Ruth, Maerk, Isabel, Karbasiyan, Mohsen, Lassmann, Hans, Höger, Harald, Davison, Keith, Bittner, Reginald E, Jung, Martin, Vafiadaki, Elizabeth, Raffelsberger, Thomas, Bushby, Kate M.D, Anderson, Louise V.B, Bashir, Rumaisa
Published in Nature genetics (01.10.1999)
Published in Nature genetics (01.10.1999)
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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)
Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus
Published in Human molecular genetics (01.05.1999)
Published in Human molecular genetics (01.05.1999)
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Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
Argov, Z, Sadeh, M, Mazor, K, Soffer, D, Kahana, E, Eisenberg, I, Mitrani-Rosenbaum, S, Richard, I, Beckmann, J, Keers, S, Bashir, R, Bushby, K, Rosenmann, H
Published in Brain (London, England : 1878) (01.06.2000)
Published in Brain (London, England : 1878) (01.06.2000)
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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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The Third Human FER-1-like Protein Is Highly Similar to Dysferlin
Britton, Stephen, Freeman, Tom, Vafiadaki, Elizabeth, Keers, Sharon, Harrison, Ruth, Bushby, Kate, Bashir, Rumaisa
Published in Genomics (San Diego, Calif.) (15.09.2000)
Published in Genomics (San Diego, Calif.) (15.09.2000)
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