Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Eva M.J. de Boer"'
Autor:
H. Stephan Goedee, Erik-Jan Kamsteeg, Jan H. Veldink, Wouter van Rheenen, Leonard H. van den Berg, Eva M.J. de Boer, Michael A van Es, Eva H. Brilstra
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22, 7-8, pp. 561-570
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22, 561-570
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22, 561-570
Contains fulltext : 243999.pdf (Publisher’s version ) (Open Access) The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc402a9a68128cfe9d126db26dbd0c4
https://doi.org/10.1080/21678421.2021.1907412
https://doi.org/10.1080/21678421.2021.1907412
Autor:
Stuart J. Anderson, Jan H. Veldink, Ammar Al-Chalabi, Malu Parson, Johannes Prudlo, Joost van Iersel, Camilo Toro, Christian A. Vedeler, Juan F. Vázquez Costa, H. Stephan Goedee, Paulo Victor Sgobbi de Souza, Marwa Elamin, Wladimir Bocca Vieira de Rezende Pinto, Angus Nisbet, Michael A. van Es, Eva M.J. de Boer, Acary Souza Bulle Oliveira, Julio Pardo Fernandez, Rebecca Broad, Leonard H. van den Berg, Maria A. Albertí Aguilo, Eleonora Dalla Bella, Peter Leigh, Mónica Povedano Panades, Giuseppe Lauria, Andrew W Barritt, Oliver Harschnitz
Publikováno v:
Neurology / Clinical Practice 11(2), 147-157 (2021). doi:10.1212/CPJ.0000000000000834
Purpose of ReviewTo improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).Recent FindingsWe identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d7eeee87301f4cdf1f6ba4d63613c1
https://doi.org/10.1212/cpj.0000000000000834
https://doi.org/10.1212/cpj.0000000000000834