Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

A. Magariello; C. Russo; L. Citrigno; Stephan L Zuchner; A. Patitucci; R. Mazzei; F. L. Conforti; E. Ferlazzo; U. Aguglia; M. Muglia

doi:10.1016/j.jns.2016.11.069

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

A. Magariello, C. Russo, L. Citrigno, Stephan L Zuchner, A. Patitucci, R. Mazzei, F. L. Conforti, E. Ferlazzo, U. Aguglia, M. Muglia

Hussman Institute for Human Genomics

Research output: Contribution to journal › Letter

5 Scopus citations

Original language	English (US)
Pages (from-to)	347-349
Number of pages	3
Journal	Journal of the Neurological Sciences
Volume	372
DOIs	https://doi.org/10.1016/j.jns.2016.11.069
State	Published - Jan 15 2017

Keywords

Exome sequencing
FA2H gene
Hereditary Spastic Paraplegia
SPG35

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1016/j.jns.2016.11.069

Cite this

Magariello, A., Russo, C., Citrigno, L., Zuchner, S. L., Patitucci, A., Mazzei, R., Conforti, F. L., Ferlazzo, E., Aguglia, U., & Muglia, M. (2017). Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. Journal of the Neurological Sciences, 372, 347-349. https://doi.org/10.1016/j.jns.2016.11.069

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. / Magariello, A.; Russo, C.; Citrigno, L.; Zuchner, Stephan L; Patitucci, A.; Mazzei, R.; Conforti, F. L.; Ferlazzo, E.; Aguglia, U.; Muglia, M.

In: Journal of the Neurological Sciences, Vol. 372, 15.01.2017, p. 347-349.

Research output: Contribution to journal › Letter

Magariello, A, Russo, C, Citrigno, L, Zuchner, SL, Patitucci, A, Mazzei, R, Conforti, FL, Ferlazzo, E, Aguglia, U & Muglia, M 2017, 'Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments', Journal of the Neurological Sciences, vol. 372, pp. 347-349. https://doi.org/10.1016/j.jns.2016.11.069

@article{6883bca9da8049b9a73ca4f547c80283,

title = "Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments",

keywords = "Exome sequencing, FA2H gene, Hereditary Spastic Paraplegia, SPG35",

author = "A. Magariello and C. Russo and L. Citrigno and Zuchner, {Stephan L} and A. Patitucci and R. Mazzei and Conforti, {F. L.} and E. Ferlazzo and U. Aguglia and M. Muglia",

year = "2017",

month = jan,

day = "15",

doi = "10.1016/j.jns.2016.11.069",

language = "English (US)",

volume = "372",

pages = "347--349",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier",

}

TY - JOUR

T1 - Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

AU - Magariello, A.

AU - Russo, C.

AU - Citrigno, L.

AU - Zuchner, Stephan L

AU - Patitucci, A.

AU - Mazzei, R.

AU - Conforti, F. L.

AU - Ferlazzo, E.

AU - Aguglia, U.

AU - Muglia, M.

PY - 2017/1/15

Y1 - 2017/1/15

KW - Exome sequencing

KW - FA2H gene

KW - Hereditary Spastic Paraplegia

KW - SPG35

UR - http://www.scopus.com/inward/record.url?scp=85002899896&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85002899896&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2016.11.069

DO - 10.1016/j.jns.2016.11.069

M3 - Letter

C2 - 28017243

AN - SCOPUS:85002899896

VL - 372

SP - 347

EP - 349

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -