Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Mario Sabatelli

doi:10.1016/S1474-4422(12)70043-1

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Mario Sabatelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista

730 Citazioni (Scopus)

Abstract

We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Lingua originale	English
pagine (da-a)	323-330
Numero di pagine	8
Rivista	LANCET NEUROLOGY
Volume	11
DOI	https://doi.org/10.1016/S1474-4422(12)70043-1
Stato di pubblicazione	Pubblicato - 2012

Keywords

Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis
Child
Child, Preschool
Chromosomes, Human, Pair 9
Cohort Studies
Cross-Sectional Studies
DNA Repeat Expansion
Female
Frontotemporal Dementia
Genetic Loci
Genotype
Humans
Male
Middle Aged
Open Reading Frames
Young Adult

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10.1016/S1474-4422(12)70043-1

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title = "Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study",

abstract = "We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).",

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year = "2012",

doi = "10.1016/S1474-4422(12)70043-1",

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T1 - Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

AU - Sabatelli, Mario

PY - 2012

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KW - Age of Onset

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KW - Aged, 80 and over

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KW - Child, Preschool

KW - Chromosomes, Human, Pair 9

KW - Cohort Studies

KW - Cross-Sectional Studies

KW - DNA Repeat Expansion

KW - Female

KW - Frontotemporal Dementia

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KW - Male

KW - Middle Aged

KW - Open Reading Frames

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KW - Adult

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KW - Aged

KW - Aged, 80 and over

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KW - Child, Preschool

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KW - Cohort Studies

KW - Cross-Sectional Studies

KW - DNA Repeat Expansion

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KW - Frontotemporal Dementia

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KW - Male

KW - Middle Aged

KW - Open Reading Frames

KW - Young Adult

UR - http://hdl.handle.net/10807/4511

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DO - 10.1016/S1474-4422(12)70043-1

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SN - 1474-4422

VL - 11

SP - 323

EP - 330

JO - LANCET NEUROLOGY

JF - LANCET NEUROLOGY

ER -

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Abstract

Keywords

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