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Journal of medical genetics, 2024-03, Vol.61 (4), p.356
2024
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Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure
2023
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Journal of genetic counseling, 2019-12, Vol.28 (6), p.1069-1086
2019
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Journal of neurology, neurosurgery and psychiatry, 2022-05, Vol.93 (5), p.530
- Yiu, Eppie M
- Bray, Paula
- Baets, Jonathan
- Baker, Steven K
- Barisic, Nina
- de Valle, Katy
- Estilow, Timothy
- Farrar, Michelle A
- Finkel, Richard S
- Haberlová, Jana
- Kennedy, Rachel A
- Moroni, Isabella
- Nicholson, Garth A
- Ramchandren, Sindhu
- Reilly, Mary M
- Rose, Kristy
- Shy, Michael E
- Siskind, Carly E
- Yum, Sabrina W
- Menezes, Manoj P
- Ryan, Monique M
- Burns, Joshua
2022
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Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.382-389
2023
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Seminars in neurology, 2011-11, Vol.31 (5), p.494
2011
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Journal of community genetics, 2019-04, Vol.10 (2), p.291-302
2019
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Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1734-1740
2009
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Annals of clinical and translational neurology, 2018-02, Vol.5 (2), p.222-225
2018
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Journal of the peripheral nervous system, 2011-06, Vol.16 (2), p.102-107
2011
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Journal of genetic counseling, 2013-08, Vol.22 (4), p.422-436
2013
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Neurology. Genetics, 2015-12, Vol.1 (4), p.e29-e29
2015
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Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.304
2014
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Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.304-305
2014
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Nature genetics, 2020-05, Vol.52 (5), p.473-481
- Cortese, Andrea
- Zhu, Yi
- Rebelo, Adriana P
- Negri, Sara
- Courel, Steve
- Abreu, Lisa
- Bacon, Chelsea J
- Bai, Yunhong
- Bis-Brewer, Dana M
- Bugiardini, Enrico
- Buglo, Elena
- Danzi, Matt C
- Feely, Shawna M E
- Athanasiou-Fragkouli, Alkyoni
- Haridy, Nourelhoda A
- Isasi, Rosario
- Khan, Alaa
- Laurà, Matilde
- Magri, Stefania
- Pipis, Menelaos
- Pisciotta, Chiara
- Powell, Eric
- Rossor, Alexander M
- Saveri, Paola
- Sowden, Janet E
- Tozza, Stefano
- Vandrovcova, Jana
- Dallman, Julia
- Grignani, Elena
- Marchioni, Enrico
- Scherer, Steven S
- Tang, Beisha
- Lin, Zhiqiang
- Al-Ajmi, Abdullah
- Schüle, Rebecca
- Synofzik, Matthis
- Maisonobe, Thierry
- Stojkovic, Tanya
- Auer-Grumbach, Michaela
- Abdelhamed, Mohamed A
- Hamed, Sherifa A
- Zhang, Ruxu
- Manganelli, Fiore
- Santoro, Lucio
- Taroni, Franco
- Pareyson, Davide
- Houlden, Henry
- Herrmann, David N
- Reilly, Mary M
- Shy, Michael E
- Zhai, R Grace
- Zuchner, Stephan
2020
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Journal of genetic counseling, 2024-02, Vol.33 (1), p.164-167
2024
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Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.382-389
2023
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Annals of neurology, 2022-10, Vol.93 (3), p.563-576
- Fridman, Vera
- Sillau, Stefan
- Bockhorst, Jacob
- Smith, Kaitlin
- Moroni, Isabella
- Pagliano, Emanuela
- Pisciotta, Chiara
- Piscosquito, Guiseppe
- Laurá, Matilde
- Muntoni, Francesco
- Bacon, Chelsea
- Feely, Shawna
- Grider, Tiffany
- Gutmann, Laurie
- Shy, Rosemary
- Wilcox, Janel
- Herrmann, David N.
- Li, Jun
- Ramchandren, Sindhu
- Sumner, Charlotte J.
- Lloyd, Thomas E.
- Day, John
- Siskind, Carly E.
- Yum, Sabrina W.
- Sadjadi, Reza
- Finkel, Richard S.
- Scherer, Steven S.
- Pareyson, Davide
- Reilly, Mary M
- Shy, Michael E.
2022
Volltextzugriff (PDF)
Brain research, 2014-08, Vol.1575, p.66-71
2014
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Genetics in medicine, 2020-12, Vol.22 (12), p.2114-2119
2020
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Muscle & nerve, 2014-04, Vol.49 (4), p.478-482
2014
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Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.304-305
2014
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Annals of neurology, 2018-03, Vol.83 (4), p.756-770
2018
Volltextzugriff (PDF)
Nature genetics, 2020-06, Vol.52 (6), p.640-640
- Cortese, Andrea
- Zhu, Yi
- Rebelo, Adriana P
- Negri, Sara
- Courel, Steve
- Abreu, Lisa
- Bacon, Chelsea J
- Bai, Yunhong
- Bis-Brewer, Dana M
- Bugiardini, Enrico
- Buglo, Elena
- Danzi, Matt C
- Feely, Shawna M E
- Athanasiou-Fragkouli, Alkyoni
- Haridy, Nourelhoda A
- Isasi, Rosario
- Khan, Alaa
- Laurà, Matilde
- Magri, Stefania
- Pipis, Menelaos
- Pisciotta, Chiara
- Powell, Eric
- Rossor, Alexander M
- Saveri, Paola
- Sowden, Janet E
- Tozza, Stefano
- Vandrovcova, Jana
- Dallman, Julia
- Grignani, Elena
- Marchioni, Enrico
- Scherer, Steven S
- Tang, Beisha
- Lin, Zhiqiang
- Al-Ajmi, Abdullah
- Schüle, Rebecca
- Synofzik, Matthis
- Maisonobe, Thierry
- Stojkovic, Tanya
- Auer-Grumbach, Michaela
- Abdelhamed, Mohamed A
- Hamed, Sherifa A
- Zhang, Ruxu
- Manganelli, Fiore
- Santoro, Lucio
- Taroni, Franco
- Pareyson, Davide
- Houlden, Henry
- Herrmann, David N
- Reilly, Mary M
- Shy, Michael E
- Zhai, R Grace
- Zuchner, Stephan
2020
Volltextzugriff (PDF)
Journal of neurology, neurosurgery and psychiatry, 2014-08, Vol.86 (6), p.635-639
2014
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