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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Moore, Ursula ; Gordish, Heather ; Diaz-Manera, Jordi ; James, Meredith K. ; Mayhew, Anna G. ; Guglieri, Michela ; Fernandez-Torron, Roberto ; Rufibach, Laura E. ; Feng, Jia ; Blamire, Andrew M. ; Carlier, Pierre G. ; Spuler, Simone ; Day, John W. ; Jones, Kristi J. ; Bharucha-Goebel, Diana X. ; Salort-Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Mori-Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Lowes, Linda Pax ; Mendell, Jerry R. ; Bushby, Kate ; Straub, Volker

Neuromuscular disorders : NMD, 2021-04, Vol.31 (4), p.265-280 [Periódico revisado por pares]

England: Elsevier B.V

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2
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
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Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Moore, Ursula ; Fernandez‐Torron, Roberto ; Jacobs, Marni ; Gordish‐Dressman, Heather ; Diaz‐Manera, Jordi ; James, Meredith K. ; Mayhew, Anna G. ; Harris, Elizabeth ; Guglieri, Michela ; Rufibach, Laura E. ; Feng, Jia ; Blamire, Andrew M. ; Carlier, Pierre G. ; Spuler, Simone ; Day, John W. ; Jones, Kristi J. ; Bharucha‐Goebel, Diana X. ; Salort‐Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Mori‐Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Lowes, Linda Pax ; Mendell, Jerry R. ; Bushby, Kate ; Bourke, John ; Straub, Volker

Muscle & nerve, 2022-05, Vol.65 (5), p.531-540 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern
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Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

Llansó, Laura ; Moore, Ursula ; Bolano-Diaz, Carla ; James, Meredith ; Blamire, Andrew M. ; Carlier, Pierre G. ; Rufibach, Laura ; Gordish-Dressman, Heather ; Boyle, Georgina ; Hilsden, Heather ; Day, John W. ; Jones, Kristi J. ; Bharucha-Goebel, Diana X. ; Salort-Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Mori-Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Mendell, Jerry R. ; Straub, Volker ; Díaz-Manera, Jordi

Neuromuscular disorders : NMD, 2023-04, Vol.33 (4), p.349-357 [Periódico revisado por pares]

England: Elsevier B.V

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4
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
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Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

Moore, Ursula ; Fernández-Simón, Esther ; Schiava, Marianela ; Cox, Dan ; Gordish-Dressman, Heather ; James, Meredith K. ; Mayhew, Anna ; Wilson, Ian ; Guglieri, Michela ; Rufibach, Laura ; Blamire, Andrew ; Carlier, Pierre G. ; Mori-Yoshimura, Madoka ; Day, John W. ; Jones, Kristi J. ; Bharucha-Goebel, Diana X. ; Salort-Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Bravver, Elena ; Pegoraro, Elena ; Mendell, Jerry R. ; Bushby, Kate ; Diaz-Manera, Jordi ; Straub, Volker

Neuromuscular disorders : NMD, 2023-02, Vol.33 (2), p.199-207 [Periódico revisado por pares]

England: Elsevier B.V

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5
KIT signaling regulates MITF expression through miRNAs in normal and malignant mast cell proliferation
KIT signaling regulates MITF expression through miRNAs in normal and malignant mast cell proliferation
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KIT signaling regulates MITF expression through miRNAs in normal and malignant mast cell proliferation

Lee, Youl-Nam ; Brandal, Stephanie ; Noel, Pierre ; Wentzel, Erik ; Mendell, Joshua T. ; McDevitt, Michael A. ; Kapur, Reuben ; Carter, Melody ; Metcalfe, Dean D. ; Takemoto, Clifford M.

Blood, 2011-03, Vol.117 (13), p.3629-3640 [Periódico revisado por pares]

Washington, DC: Elsevier Inc

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6
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
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Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

Moore, Ursula R ; Jacobs, Marni ; Fernandez-Torron, Roberto ; Jang, Jiji ; James, Meredith K ; Mayhew, Anna ; Rufibach, Laura ; Mittal, Plavi ; Eagle, Michelle ; Cnaan, Avital ; Carlier, Pierre G ; Blamire, Andrew ; Hilsden, Heather ; Lochmüller, Hanns ; Grieben, Ulrike ; Spuler, Simone ; Tesi Rocha, Carolina ; Day, John W ; Jones, Kristi J ; Bharucha-Goebel, Diana X ; Salort-Campana, Emmanuelle ; Harms, Matthew ; Pestronk, Alan ; Krause, Sabine ; Schreiber-Katz, Olivia ; Walter, Maggie C ; Paradas, Carmen ; Hogrel, Jean-Yves ; Stojkovic, Tanya ; Takeda, Shin’ichi ; Mori-Yoshimura, Madoka ; Bravver, Elena ; Sparks, Susan ; Diaz-Manera, Jordi ; Bello, Luca ; Semplicini, Claudio ; Pegoraro, Elena ; Mendell, Jerry R ; Bushby, Kate ; Straub, Volker

Journal of neurology, neurosurgery and psychiatry, 2018-11, Vol.89 (11), p.1224-1226 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
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Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Moore, Ursula ; Jacobs, Marni ; Fernandez-Torron, Roberto ; LLauger Rossello, Jaume ; Smith, Fiona E ; James, Meredith ; Mayhew, Anna ; Rufibach, Laura ; Carlier, Pierre G ; Blamire, Andrew M ; Day, John W ; Jones, Kristi J ; Bharucha-Goebel, Diana X ; Salort-Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C ; Paradas, Carmen ; Stojkovic, Tanya ; Mori-Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Mendell, Jerry R ; Bushby, Kate ; Straub, Volker ; Diaz-Manera, Jordi

Frontiers in neurology, 2020-12, Vol.11, p.613446-613446 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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8
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
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The Clinical Outcome Study for dysferlinopathy: An international multicenter study

Harris, Elizabeth ; Bladen, Catherine L ; Mayhew, Anna ; James, Meredith ; Bettinson, Karen ; Moore, Ursula ; Smith, Fiona E ; Rufibach, Laura ; Cnaan, Avital ; Bharucha-Goebel, Diana X ; Blamire, Andrew M ; Bravver, Elena ; Carlier, Pierre G ; Day, John W ; Díaz-Manera, Jordi ; Eagle, Michelle ; Grieben, Ulrike ; Harms, Matthew ; Jones, Kristi J ; Lochmüller, Hanns ; Mendell, Jerry R ; Mori-Yoshimura, Madoka ; Paradas, Carmen ; Pegoraro, Elena ; Pestronk, Alan ; Salort-Campana, Emmanuelle ; Schreiber-Katz, Olivia ; Semplicini, Claudio ; Spuler, Simone ; Stojkovic, Tanya ; Straub, Volker ; Takeda, Shin'ich ; Rocha, Carolina Tesi ; Walter, M C ; Bushby, Kate

Neurology. Genetics, 2016-08, Vol.2 (4), p.e89-e89 [Periódico revisado por pares]

United States: Wolters Kluwer

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9
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
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Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

Mayhew, Anna G ; James, Meredith K ; Moore, Ursula ; Sutherland, Helen ; Jacobs, Marni ; Feng, Jia ; Lowes, Linda Pax ; Alfano, Lindsay N ; Muni Lofra, Robert ; Rufibach, Laura E ; Rose, Kristy ; Duong, Tina ; Bello, Luca ; Pedrosa-Hernández, Irene ; Holsten, Scott ; Sakamoto, Chikako ; Canal, Aurélie ; Sánchez-Aguilera Práxedes, Nieves ; Thiele, Simone ; Siener, Catherine ; Vandevelde, Bruno ; DeWolf, Brittney ; Maron, Elke ; Gordish-Dressman, Heather ; Hilsden, Heather ; Guglieri, Michela ; Hogrel, Jean-Yves ; Blamire, Andrew M ; Carlier, Pierre G ; Spuler, Simone ; Day, John W ; Jones, Kristi J ; Bharucha-Goebel, Diana X ; Salort-Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C ; Paradas, Carmen ; Stojkovic, Tanya ; Mori-Yoshimura, Madoka ; Bravver, Elena ; Díaz-Manera, Jordi ; Pegoraro, Elena ; Mendell, Jerry R ; Straub, Volker

Frontiers in neurology, 2022-03, Vol.13, p.828525-828525 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
La institucionalización de la evaluación del impacto en la salud en Quebec: ¿un modelo factible en España? The institutionalization of health impact assessment in Quebec: a feasible model in Spain?
La institucionalización de la evaluación del impacto en la salud en Quebec: ¿un modelo factible en España? The institutionalization of health impact assessment in Quebec: a feasible model in Spain?
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La institucionalización de la evaluación del impacto en la salud en Quebec: ¿un modelo factible en España? The institutionalization of health impact assessment in Quebec: a feasible model in Spain?

Elena Boldo ; Louise St-Pierre ; Anika Mendell ; François Benoit

Gaceta sanitaria, 2011-12, Vol.25 (6), p.535-541 [Periódico revisado por pares]

Elsevier

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