Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker-Reference-Cited by-同舟云学术

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

Published:2020-10-12 Issue:12 Volume:35 Page:2139-2149
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Renaud Mathilde¹²,Tranchant Christine³⁴⁵,Koenig Michel⁶,Anheim Mathieu³⁴⁵

Affiliation:

1. Service de Génétique Clinique CHRU de Nancy Nancy France

2. INSERM‐U1256 NGERE Université de Lorraine Nancy France

3. Service de Neurologie Hôpitaux Universitaires de Strasbourg Strasbourg France

4. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) INSERM‐U964/CNRS‐UMR7104/Université de Strasbourg Illkirch France

5. Fédération de Médecine Translationnelle de Strasbourg (FMTS) Université de Strasbourg Strasbourg France

6. Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique Université de Montpellier, CHU Montpellier Montpellier France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28307

Reference80 articles.

1. The Autosomal Recessive Cerebellar Ataxias

2. Saccades and Eye–Head Coordination in Ataxia with Oculomotor Apraxia Type 2

3. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

4. A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

5. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

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