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Author/Creator Koehorst, Emma

1. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Issue 2 (4th November 2019)

Authors:
Ballester‐Lopez, Alfonsina; Koehorst, Emma; Almendrote, Miriam; Martínez‐Piñeiro, Alicia; Lucente, Giuseppe; Linares‐Pardo, Ian; Núñez‐Manchón, Judit; Guanyabens, Nicolau; Cano, Antoni; Lucia, Alejandro; Overend, Gayle; Cumming, Sarah A.; Monckton, Darren G.; Casadevall, Teresa; Isern, Irina; Sán...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
420
Record Type:
Journal Article
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2. Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality‐role of statins. Issue 6 (20th July 2018)

Authors:
Núñez‐Manchón, Judit; Ballester‐Lopez, Alfonsina; Koehorst, Emma; Linares‐Pardo, Ian; Coenen, Daniëlle; Ara, Ignacio; Rodriguez‐Lopez, Carlos; Ramos‐Fransi, Alba; Martínez‐Piñeiro, Alicia; Lucente, Giuseppe; Almendrote, Miriam; Coll‐Cantí, Jaume; Pintos‐Morell, Guillem; Santos‐Lozano, Alejandro; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 6(2018)
Page Start:
1295
Record Type:
Journal Article
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3. Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins. Issue 6 (20th June 2018)

Authors:
Núñez‐Manchón, Judit; Ballester‐Lopez, Alfonsina; Koehorst, Emma; Linares‐Pardo, Ian; Coenen, Daniëlle; Ara, Ignacio; Rodriguez‐Lopez, Carlos; Ramos‐Fransi, Alba; Martínez‐Piñeiro, Alicia; Lucente, Giuseppe; Almendrote, Miriam; Coll‐Cantí, Jaume; Pintos‐Morell, Guillem; Santos‐Lozano, Alejandro; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 6(2018)
Page Start:
1027
Record Type:
Journal Article
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4. Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype. (August 2020)

Authors:
Ballester-Lopez, Alfonsina; Núñez-Manchón, Judit; Koehorst, Emma; Linares-Pardo, Ian; Almendrote, Miriam; Lucente, Giuseppe; Guanyabens, Nicolau; Lopez-Osias, Marta; Suárez-Mesa, Adrián; Hanick, Shaliza Ann; Chojnacki, Jakub; Lucia, Alejandro; Pintos-Morell, Guillem; Coll-Cantí, Jaume; Martínez-P...
Journal:
Neurology
Issue:
Volume 6:Number 4(2020)
Page Start:
Record Type:
Journal Article
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