Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome ; volume:17 ; number:1 ; day:1 ; month:10 ; year:2022 ; pages:1-19 ; date:12.2022
Orphanet journal of rare diseases ; 17, Heft 1 (1.10.2022), 1-19, 12.2022
- Urheber
-
Tremblay, Marjolaine
Girard-Côté, Laura
Brais, Bernard
Gagnon, Cynthia
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-022-02497-1
- URN
-
urn:nbn:de:101:1-2022122021230873675342
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
- 15.08.2025, 07:25 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Tremblay, Marjolaine
- Girard-Côté, Laura
- Brais, Bernard
- Gagnon, Cynthia
- SpringerLink (Online service)
Ähnliche Objekte (12)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Autosomal recessive cerebellar ataxias
Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Autosomal recessive myotonia congenita in sheep
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Autosomal recessive cerebellar ataxias
Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Autosomal recessive myotonia congenita in sheep
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Autosomal recessive cerebellar ataxias
Correction: Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia