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Author/Creator Pinto, Susana

1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Issue 6 (4th April 2014)

Authors:
Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Ales...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 6(2014)
Page Start:
419
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. ALS and fertility: does ALS affect number of children patients have?. Issue 1 (2nd January 2021)

Authors:
Uysal, HIlmi; Bilge, Uğur; İlhanli, Nevruz; Gromicho, Marta; Grosskreutz, Julian; Kuzma-Kozakiewicz, Magdalena; Pinto, Susana; Petri, Susanne; Szacka, Katarzyna; Nieporecki, Krzysztof; De Carvalho, Mamede
Journal:
Amyotrophic lateral sclerosis and frontotemporal degeneration
Issue:
Volume 22:Issue 1/2(2021)
Page Start:
94
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis. Issue 1 (16th April 2018)

Authors:
Miltenberger-Miltenyi, Gabriel; Conceição, Vasco A; Gromicho, Marta; Pronto-Laborinho, Ana Catarina; Pinto, Susana; Andersen, Peter M; de Carvalho, Mamede
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 1(2019)
Page Start:
118
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗