Concepedia

Nuria Muelas

NM

46

Publications

2.4K

Citations

28

H-Index

2008

Active since

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Centre for Biomedical Network Research on Rare Diseases

Centro de Investigación Biomédica en Red

Biomedical Research Networking Center on Neurodegenerative Diseases

Instituto de Investigación Sanitaria La Fe

Nuria Muelas is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2008–2024

46

Publications

46

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas et al. · Brain · 2010 · 223 citations · Full text

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 171 citations · Full text

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Charcot-Marie-Tooth disease

Rafael Sivera, Teresa Sevilla, Juan J. Vílchez et al. · Neurology · 2013 · 128 citations · Full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

<i>MYH7</i> gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Nuria Muelas, Peter Hackman, H. Luque et al. · Neurology · 2010 · 104 citations

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