The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation
Abstract: Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.
- Weitere Titel
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A história por detrás da ELA tipo 8: da primeira descrição do fenótipo à descoberta da mutação VAPB
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation ; volume:79 ; number:08 ; year:2021 ; pages:743-747
Arquivos de neuro-psiquiatria ; 79, Heft 08 (2021), 743-747
- Beteiligte Personen und Organisationen
- DOI
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10.1590/0004-282X-ANP-2020-0548
- URN
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urn:nbn:de:101:1-2023072010521632577211
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 11:01 MESZ
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Beteiligte
- NOVIS, Luiz Eduardo
- SPITZ, Mariana
- Teive, Helio
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