Mild Neurological Phenotype Associated with Hypomorphic Variants in the <scp>Ataxia‐Telangiectasia</scp> Mutated Gene-Reference-Cited by-同舟云学术

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia‐Telangiectasia Mutated Gene

Published:2022-12-10 Issue:1 Volume:10 Page:124-129
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Caputi Caterina¹,Federici Giulia²,Soddu Silvia²,Travaglini Lorena³,Piane Maria⁴,Bertini Enrico³,Zanni Ginevra³,Leuzzi Vincenzo¹

Affiliation:

1. Department of Human Neuroscience Sapienza University Rome Italy

2. Unit of Cellular Networks and Molecular Therapeutic Targets Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Regina Elena National Cancer Institute Rome Italy

3. Unit of Neuromuscular and Neurodegenerative Diseases Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Bambino Gesù Children's Hospital Rome Italy

4. Department of Clinical and Molecular Medicine Sapienza University Rome Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13618

Reference17 articles.

1. Ataxia telangiectasia: a review

2. Genotype, extrapyramidal features and severity of variant Ataxia‐Telangiectasia

3. p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

4. Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients

5. Ataxia-telangiectasia

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