Neurofibromatosis 1

Timothy M. Lynch; David H. Gutmann

doi:10.1016/S0733-8619(01)00019-6

Neurofibromatosis 1

Timothy M. Lynch, David H. Gutmann

Research output: Contribution to journal › Review article › peer-review

95 Scopus citations

Abstract

Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. The NF1 tumor suppressor gene encodes a large protein (neurofibromin) that functions primarily as a RAS negative regulator, suggesting that targeted therapy for NF1 might derive from inhibition of the RAS signaling pathway.

Original language	English
Pages (from-to)	841-865
Number of pages	25
Journal	Neurologic Clinics
Volume	20
Issue number	3
DOIs	https://doi.org/10.1016/S0733-8619(01)00019-6
State	Published - Aug 2002

Access to Document

10.1016/S0733-8619(01)00019-6

Cite this

@article{589c609ca60f450d81aeecdb4297146f,

title = "Neurofibromatosis 1",

abstract = "Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. The NF1 tumor suppressor gene encodes a large protein (neurofibromin) that functions primarily as a RAS negative regulator, suggesting that targeted therapy for NF1 might derive from inhibition of the RAS signaling pathway.",

author = "Lynch, {Timothy M.} and Gutmann, {David H.}",

year = "2002",

month = aug,

doi = "10.1016/S0733-8619(01)00019-6",

language = "English",

volume = "20",

pages = "841--865",

journal = "Neurologic Clinics",

issn = "0733-8619",

number = "3",

}

TY - JOUR

T1 - Neurofibromatosis 1

AU - Lynch, Timothy M.

AU - Gutmann, David H.

PY - 2002/8

Y1 - 2002/8

N2 - Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. The NF1 tumor suppressor gene encodes a large protein (neurofibromin) that functions primarily as a RAS negative regulator, suggesting that targeted therapy for NF1 might derive from inhibition of the RAS signaling pathway.

AB - Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. The NF1 tumor suppressor gene encodes a large protein (neurofibromin) that functions primarily as a RAS negative regulator, suggesting that targeted therapy for NF1 might derive from inhibition of the RAS signaling pathway.

UR - http://www.scopus.com/inward/record.url?scp=0036699110&partnerID=8YFLogxK

U2 - 10.1016/S0733-8619(01)00019-6

DO - 10.1016/S0733-8619(01)00019-6

M3 - Review article

C2 - 12432832

AN - SCOPUS:0036699110

SN - 0733-8619

VL - 20

SP - 841

EP - 865

JO - Neurologic Clinics

JF - Neurologic Clinics

IS - 3

ER -

Neurofibromatosis 1

Abstract

Access to Document

Other files and links

Fingerprint

Cite this