Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia

Lorena Travaglini, Emanuele Bellacchio, Chiara Aiello, Stefano Pro, Enrico Bertini, Francesco Nicita

Research output: Contribution to journalLetter

10 Citations (Scopus)
Original languageEnglish
Pages (from-to)210-212
Number of pages3
JournalJournal of the Neurological Sciences
Volume378
DOIs
Publication statusPublished - Jul 15 2017

Keywords

  • Ataxia
  • Calpains
  • CAPN1
  • Central nervous system
  • Hereditary spastic paraplegia
  • Targeted resequencing

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

@article{e682563a1a214d89b5f9af33b69128c9,
title = "Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia",
keywords = "Ataxia, Calpains, CAPN1, Central nervous system, Hereditary spastic paraplegia, Targeted resequencing",
author = "Lorena Travaglini and Emanuele Bellacchio and Chiara Aiello and Stefano Pro and Enrico Bertini and Francesco Nicita",
year = "2017",
month = "7",
day = "15",
doi = "10.1016/j.jns.2017.05.014",
language = "English",
volume = "378",
pages = "210--212",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

TY - JOUR

T1 - Expanding the clinical phenotype of CAPN1-associated mutations

T2 - A new case with congenital-onset pure spastic paraplegia

AU - Travaglini, Lorena

AU - Bellacchio, Emanuele

AU - Aiello, Chiara

AU - Pro, Stefano

AU - Bertini, Enrico

AU - Nicita, Francesco

PY - 2017/7/15

Y1 - 2017/7/15

KW - Ataxia

KW - Calpains

KW - CAPN1

KW - Central nervous system

KW - Hereditary spastic paraplegia

KW - Targeted resequencing

UR - http://www.scopus.com/inward/record.url?scp=85019181830&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85019181830&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2017.05.014

DO - 10.1016/j.jns.2017.05.014

M3 - Letter

AN - SCOPUS:85019181830

VL - 378

SP - 210

EP - 212

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -