SEPN1-related myopathies: clinical course in a large cohort of patients

M Scoto; S Cirak; R Mein; L Feng; Ay Manzur; S Robb; A Childs; Rm Quinlivan; H Roper; Dh Jones; C Longman; G Chow; Marika Pane; M Main; Mg Hanna; K Bushby; C Sewry; S Abbs; Eugenio Maria Mercuri; F. Muntoni

doi:10.1212/WNL.0b013e31821f467c

SEPN1-related myopathies: clinical course in a large cohort of patients

M Scoto
, S Cirak
, R Mein
, L Feng
, Ay Manzur
, S Robb
, A Childs
, Rm Quinlivan
, H Roper
, Dh Jones
, C Longman
, G Chow
, Marika Pane
, M Main
, Mg Hanna
, K Bushby
, C Sewry
, S Abbs
, Eugenio Maria Mercuri
, F. Muntoni^*

^*Autore corrispondente per questo lavoro

University College London

Risultato della ricerca: Contributo in rivista › Articolo

48 Citazioni (Scopus)

Abstract

To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.

Lingua originale	Inglese
pagine (da-a)	2073-2078
Numero di pagine	6
Rivista	Neurology
Volume	76
Numero di pubblicazione	24
DOI	https://doi.org/10.1212/WNL.0b013e31821f467c
Stato di pubblicazione	Pubblicato - 2011

All Science Journal Classification (ASJC) codes

Neurologia (clinica)

Keywords

Adolescent
Adult
Child
Cohort Studies
Cross-Sectional Studies
Female
Genetic Association Studies
Humans
Infant
Male
Middle Aged
Muscle Proteins
Muscular Diseases
Mutation
Preschool
Selenoproteins
Severity of Illness Index
Young Adult

Accesso al documento

10.1212/WNL.0b013e31821f467c

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Scoto, M., Cirak, S., Mein, R., Feng, L., Manzur, A., Robb, S., Childs, A., Quinlivan, R., Roper, H., Jones, D., Longman, C., Chow, G., Pane, M., Main, M., Hanna, M., Bushby, K., Sewry, C., Abbs, S., Mercuri, E. M., & Muntoni, F. (2011). SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology, 76(24), 2073-2078. https://doi.org/10.1212/WNL.0b013e31821f467c

@article{1fe8082f15f84d1e8b195d9cdd89efd1,

title = "SEPN1-related myopathies: clinical course in a large cohort of patients",

abstract = "To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.",

keywords = "Adolescent, Adult, Child, Cohort Studies, Cross-Sectional Studies, Female, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Muscle Proteins, Muscular Diseases, Mutation, Preschool, Selenoproteins, Severity of Illness Index, Young Adult, Adolescent, Adult, Child, Cohort Studies, Cross-Sectional Studies, Female, Genetic Association Studies, Humans, Infant, Male, Middle Aged, Muscle Proteins, Muscular Diseases, Mutation, Preschool, Selenoproteins, Severity of Illness Index, Young Adult",

author = "M Scoto and S Cirak and R Mein and L Feng and Ay Manzur and S Robb and A Childs and Rm Quinlivan and H Roper and Dh Jones and C Longman and G Chow and Marika Pane and M Main and Mg Hanna and K Bushby and C Sewry and S Abbs and Mercuri, \{Eugenio Maria\} and F. Muntoni",

year = "2011",

doi = "10.1212/WNL.0b013e31821f467c",

language = "English",

volume = "76",

pages = "2073--2078",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "24",

}

Scoto, M, Cirak, S, Mein, R, Feng, L, Manzur, A, Robb, S, Childs, A, Quinlivan, R, Roper, H, Jones, D, Longman, C, Chow, G, Pane, M, Main, M, Hanna, M, Bushby, K, Sewry, C, Abbs, S, Mercuri, EM & Muntoni, F 2011, 'SEPN1-related myopathies: clinical course in a large cohort of patients', Neurology, vol. 76, n. 24, pagg. 2073-2078. https://doi.org/10.1212/WNL.0b013e31821f467c

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AU - Scoto, M

AU - Cirak, S

AU - Mein, R

AU - Feng, L

AU - Manzur, Ay

AU - Robb, S

AU - Childs, A

AU - Quinlivan, Rm

AU - Roper, H

AU - Jones, Dh

AU - Longman, C

AU - Chow, G

AU - Pane, Marika

AU - Main, M

AU - Hanna, Mg

AU - Bushby, K

AU - Sewry, C

AU - Abbs, S

AU - Mercuri, Eugenio Maria

AU - Muntoni, F.

PY - 2011

Y1 - 2011

N2 - To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.

AB - To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.

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KW - Adult

KW - Child

KW - Cohort Studies

KW - Cross-Sectional Studies

KW - Female

KW - Genetic Association Studies

KW - Humans

KW - Infant

KW - Male

KW - Middle Aged

KW - Muscle Proteins

KW - Muscular Diseases

KW - Mutation

KW - Preschool

KW - Selenoproteins

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KW - Adult

KW - Child

KW - Cohort Studies

KW - Cross-Sectional Studies

KW - Female

KW - Genetic Association Studies

KW - Humans

KW - Infant

KW - Male

KW - Middle Aged

KW - Muscle Proteins

KW - Muscular Diseases

KW - Mutation

KW - Preschool

KW - Selenoproteins

KW - Severity of Illness Index

KW - Young Adult

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DO - 10.1212/WNL.0b013e31821f467c

M3 - Article

SN - 0028-3878

VL - 76

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EP - 2078

JO - Neurology

JF - Neurology

IS - 24

ER -

SEPN1-related myopathies: clinical course in a large cohort of patients

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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