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217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
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217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

Jungbluth, Heinz ; Dowling, James J. ; Ferreiro, Ana ; Muntoni, Francesco ; Bönnemann, Carsten ; Dirksen, Robert ; Faure, Julien ; Hamilton, Susan ; Hopkins, Phil ; Marks, Andrew ; Marty, Isabelle ; Meilleur, Katy ; Riazi, Sheila ; Sewry, Caroline ; Treves, Susan ; Voermans, Nicol ; Zorzato, Francesco

Neuromuscular disorders : NMD, 2016-09, Vol.26 (9), p.624-633 [Periódico revisado por pares]

England: Elsevier B.V

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2
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
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Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

Jungbluth, Heinz ; Treves, Susan ; Zorzato, Francesco ; Sarkozy, Anna ; Ochala, Julien ; Sewry, Caroline ; Phadke, Rahul ; Gautel, Mathias ; Muntoni, Francesco

Nature reviews. Neurology, 2018-03, Vol.14 (3), p.151-167 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm
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Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

Treves, Susan ; Jungbluth, Heinz ; Muntoni, Francesco ; Zorzato, Francesco Hohenegger, M

Current opinion in pharmacology, 2008-06, Vol.8 (3), p.319-326 [Periódico revisado por pares]

England: Elsevier Ltd

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4
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations
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Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations

Ruiz, Alexis ; Eckhardt, Jan ; Treves, Susan ; Zorzato, Francesco

The Journal of general physiology, 2022-09, Vol.154 (9) [Periódico revisado por pares]

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5
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations: Calcium Signaling and Excitation–Contraction in Cardiac, Skeletal and Smooth Muscle
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations: Calcium Signaling and Excitation–Contraction in Cardiac, Skeletal and Smooth Muscle
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Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations: Calcium Signaling and Excitation–Contraction in Cardiac, Skeletal and Smooth Muscle

Ruiz, Alexis ; Eckhardt, Jan ; Treves, Susan ; Zorzato, Francesco

The Journal of general physiology, 2022-09, Vol.154 (9), p.1 [Periódico revisado por pares]

New York: Rockefeller University Press

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6
Current and future therapeutic approaches to the congenital myopathies
Current and future therapeutic approaches to the congenital myopathies
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Current and future therapeutic approaches to the congenital myopathies

Jungbluth, Heinz ; Ochala, Julien ; Treves, Susan ; Gautel, Mathias

Seminars in cell & developmental biology, 2017-04, Vol.64, p.191-200 [Periódico revisado por pares]

England: Elsevier Ltd

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7
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Treves, Susan ; Girard, Thierry ; Zorzato, Francesco

Journal of visualized experiments, 2021-06 (172) [Periódico revisado por pares]

United States

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8
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Bachmann, Christoph ; Noreen, Faiza ; Voermans, Nicol C. ; Schär, Primo L. ; Vissing, John ; Fock, Johanna M. ; Bulk, Saskia ; Kusters, Benno ; Moore, Steven A. ; Beggs, Alan H. ; Mathews, Katherine D. ; Meyer, Megan ; Genetti, Casie A. ; Meola, Giovanni ; Cardani, Rosanna ; Mathews, Emma ; Jungbluth, Heinz ; Muntoni, Francesco ; Zorzato, Francesco ; Treves, Susan

Human mutation, 2019-07, Vol.40 (7), p.962-974, Article humu.23745 [Periódico revisado por pares]

United States: Hindawi Limited

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9
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
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Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies

Eckhardt, Jan ; Ruiz, Alexis ; Koenig, Stéphane ; Frieden, Maud ; Meier, Hervé ; Schmidt, Alexander ; Treves, Susan ; Zorzato, Francesco

eLife, 2023-03, Vol.12 [Periódico revisado por pares]

England: eLife Sciences Publications, Ltd

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10
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Material Type:
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Treves, Susan ; Girard, Thierry ; Zorzato, Francesco

Journal of visualized experiments, 2021-06 (172) [Periódico revisado por pares]

Sem texto completo

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