Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region-Reference-Cited by-同舟云学术

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

Published:2018-12-07 Issue:3 Volume:26 Page:519-524
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Bertolin C.¹^ORCID,Querin G.²^ORCID,Martinelli I.¹,Pennuto M.³⁴⁵⁶,Pegoraro E.¹,Sorarù G.¹

Affiliation:

1. Department of Neurosciences University of Padova Padova Italy

2. Laboratoire d'Imagerie Biomédicale Sorbonne University CNRS INSERM Paris France

3. Department of Biomedical Sciences University of Padova Padova Italy

4. Venetian Institute of Molecular Medicine Padova Italy

5. Myology Center University of Padova Padova Italy

6. Padova Neuroscience Center Padova Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.13850

Reference22 articles.

1. Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy

2. Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females

3. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

4. Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease

5. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

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