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발행년	- (예 : 2010-2015)

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)

Academic Journal

Joureau, B; de Winter, JM; Conijn, S; Bogaards, SJP; Kovacevic, I; Kalganov, A; Persson, M; Lindqvist, J; Stienen, GJM; Irving, TC; Ma, WK; Yuen, M; Clarke, NF; Rassier, DE; Malfatti, E; Romero, NB; Beggs, AH; Ottenheijm, CAC

Annals of neurology. 83(2):269-282

Full Text (Wiley Journals) Full Text (Wiley-DB) Open Access (SwePub) Web of Science JCR 저널정보 Scopus Find it@PNU

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

Academic Journal

Clarke, NF; Kidson, W; Quijano-Roy, S; Estournet, B; Ferreiro, A; Guicheney, P; Manson, JI; Kornberg, AJ; Shield, LK; North, KN

ANNALS OF NEUROLOGY; MAR 2006, 59 3, p546-p552, 7p.

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A novel X-linked form of congenital fiber-type disproportion

Academic Journal

Clarke, NF; Smith, RLL; Bahlo, M; North, KN

ANNALS OF NEUROLOGY; NOV 2005, 58 5, p767-p772, 6p.

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Actin mutations are one cause of congenital fibre type disproportion

Academic Journal

Laing, NG; Clarke, NF; Dye, DE; Liyanage, K; Walker, KR; Kobayashi, Y; Shimakawa, S; Hagiwara, T; Ouvrier, R; Sparrow, JC; Nishino, I; North, KN; Nonaka, I

ANNALS OF NEUROLOGY; NOV 2004, 56 5, p689-p694, 6p.

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Congenital fiber type disproportion - 30 years on

Academic Journal

Clarke, NF; North, KN

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY; OCT 2003, 62 10, p977-p989, 13p.

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D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

Academic Journal

Clarke, NF; Andrews, I; Carpenter, K; Jakobs, C; van der Knaap, MS; Kirk, EP

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; AUG 1 2003, 120A 4, p523-p527, 5p.

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Fragile X syndrome phenotype with normal FMR1 gene studies

Academic Journal

Clarke, NF; Mowat, D; Kooy, RF; Reyniers, E; Willemsen, R

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; SEP 1 2004, 129A 3, p326-p328, 3p.

Web of Science Scopus Find it@PNU

The genetic basis of congenital fibre type disproportion

Academic Journal

Clarke, NF; Ilkovski, B; Smith, RLL; Manson, JI; Kornberg, AJ; Shield, LK; Nishino, I; Nonaka, I; Laing, NG; North, KN

JOURNAL OF THE NEUROLOGICAL SCIENCES; NOV 15 2005, 238 pS95-pS95, 1p. Supplement: 1

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The genetic basis and clinical features of congenital fibre type disproportion

Academic Journal

Clarke, NF; Laing, NG; Walker, KR; Dye, D; Nonaka, I; Nishino, I; Beggs, AH; Dexter, NC; North, KN

NEUROMUSCULAR DISORDERS; SEP 2004, 14 8-9, p588-p588, 1p.

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