Axonal Chaucot-Marie-Tooth disease and the neurofilament light Gene (NF-L)

被引：16

作者：

Lupski, JR ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 01期

关键词：

D O I：

10.1086/302986

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：8 / 10

页数：3

共 30 条

[1]

BENOTHMANE K, 1993, GENOMICS, V17, P370

[2] Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 [J].

Bolino, A ;

Muglia, M ;

Conforti, FL ;

LeGuern, E ;

Salih, MAM ;

Georgiou, DM ;

Christodoulou, K ;

Hausmanowa-Petrusewicz, I ;

Mandich, P ;

Schenone, A ;

Gambardella, A ;

Bono, F ;

Quattrone, A ;

Devoto, M ;

Monaco, AP .

NATURE GENETICS, 2000, 25 (01) :17-19

[3]

Carpenter DA, 1996, J CELL SCI, V109, P2493

[4] Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease [J].

Cleveland, DW ;

Bruijn, LI ;

Wong, PC ;

Marszalek, JR ;

Vechio, JD ;

Lee, MK ;

Xu, XS ;

Borchelt, DR ;

Sisodia, SS ;

Price, DL .

NEUROLOGY, 1996, 47 (04) :S54-S61

[5] Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family [J].

De Jonghe, P ;

Timmerman, V ;

FitzPatrick, D ;

Spoelders, P ;

Martin, JJ ;

Van Broeckhoven, C .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1997, 62 (06) :570-573

[6] LOCAL MODULATION OF NEUROFILAMENT PHOSPHORYLATION, AXONAL CALIBER, AND SLOW AXONAL-TRANSPORT BY MYELINATING SCHWANN-CELLS [J].

DEWAEGH, SM ;

LEE, VMY ;

BRADY, ST .

CELL, 1992, 68 (03) :451-463

[7] Aberrant neurofilament phosphorylation in sensory neurons of rats with diabetic neuropathy [J].

Fernyhough, P ;

Gallagher, A ;

Averill, SA ;

Priestley, JV ;

Hounsom, L ;

Patel, J ;

Tomlinson, DR .

DIABETES, 1999, 48 (04) :881-889

[8] Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood -: A longitudinal clinical and electrophysiologic study [J].

García, A ;

Combarros, O ;

Calleja, J ;

Berciano, J .

NEUROLOGY, 1998, 50 (04) :1061-1067

[9] SELF-ASSEMBLY INVITRO OF THE 68,000 MOLECULAR-WEIGHT COMPONENT OF THE MAMMALIAN NEUROFILAMENT TRIPLET PROTEINS INTO INTERMEDIATE-SIZED FILAMENTS [J].

GEISLER, N ;

WEBER, K .

JOURNAL OF MOLECULAR BIOLOGY, 1981, 151 (03) :565-571

[10] Aberrant stress-induced phosphorylation of perikaryal neurofilaments [J].

Giasson, BI ;

Mushynski, WE .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (48) :30404-30409

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