The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Frontiers in Neurology ; 12 (2021). - Art.-Nr. 677551. - eISSN 1664-2295

Keyword: Ataxie
Naturgeschichte (Fach)

Event: Veröffentlichung

(where): Ulm

(who): Universität Ulm

(when): 2021

Creator: Traschütz, Andreas
Reich, Selina
Adarmes, Astrid D.
Anheim, Mathieu
Ashrafi, Mahmoud Reza
Baets, Jonathan
Basak, A. Nazli
Bertini, Enrico
Brais, Bernard
Gagnon, Cynthia
Gburek-Augustat, Janina
Hanagasi, Hasmet A.
Heinzmann, Anna
Horvath, Rita
de Jonghe, Peter
Kamm, Christoph
Klivenyi, Peter
Klopstock, Thomas
Minnerop, Martina
Münchau, Alexander
Renaud, Mathilde
Roxburgh, Richard H.
Santorelli, Filippo M.
Schirinzi, Tommaso
Sival, Deborah A.
Timmann-Braun, Dagmar
Vielhaber, Stefan
Wallner, Michael
van de Warrenburg, Bart P.
Zanni, Ginevra
Zuchner, Stephan
Klockgether, Thomas
Schüle-Freyer, Rebecca
Schöls, Ludger
Synofzik, Matthis

DOI: 10.18725/OPARU-45424

URN: urn:nbn:de:bsz:289-oparu-45500-5

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:32 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Traschütz, Andreas
Reich, Selina
Adarmes, Astrid D.
Anheim, Mathieu
Ashrafi, Mahmoud Reza
Baets, Jonathan
Basak, A. Nazli
Bertini, Enrico
Brais, Bernard
Gagnon, Cynthia
Gburek-Augustat, Janina
Hanagasi, Hasmet A.
Heinzmann, Anna
Horvath, Rita
de Jonghe, Peter
Kamm, Christoph
Klivenyi, Peter
Klopstock, Thomas
Minnerop, Martina
Münchau, Alexander
Renaud, Mathilde
Roxburgh, Richard H.
Santorelli, Filippo M.
Schirinzi, Tommaso
Sival, Deborah A.
Timmann-Braun, Dagmar
Vielhaber, Stefan
Wallner, Michael
van de Warrenburg, Bart P.
Zanni, Ginevra
Zuchner, Stephan
Klockgether, Thomas
Schüle-Freyer, Rebecca
Schöls, Ludger
Synofzik, Matthis
Universität Ulm

Time of origin

2021

Other Objects (12)

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Hochschulschrift

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Hochschulschrift

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Hochschulschrift

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read and agree to the privacy policy for the collection of personal data.*

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

Show object

References and Relationships

Classification and Topics

Contributors, Places and Time

Further information

Data provider

Associated

Time of origin

Other Objects (12)

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Early clinical management of autosomal recessive polycystic kidney disease

Milestone discoveries of autosomal recessive childhood proximal spinal muscular atrophies

Related objects

Reset password