Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene ; volume:6 ; number:1 ; day:10 ; month:3 ; year:2011 ; pages:1-4 ; date:12.2011
Orphanet journal of rare diseases ; 6, Heft 1 (10.3.2011), 1-4, 12.2011

Creator: Sevin, Caroline

Contributor: Ferdinandusse, Sacha
Waterham, Hans R.
Wanders, Ronald J.
Aubourg, Patrick
SpringerLink (Online service)

DOI: 10.1186/1750-1172-6-8

URN: urn:nbn:de:1111-2016050120264

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:58 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

Sevin, Caroline
Ferdinandusse, Sacha
Waterham, Hans R.
Wanders, Ronald J.
Aubourg, Patrick
SpringerLink (Online service)

Other Objects (12)

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

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 the terms of use and the privacy policy for the collection of personal data and accept them. *

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.

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Autosomal recessive cerebellar ataxias

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

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

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 spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Related objects

Reset password