Inherited peripheral neuropathies: a myriad of genes and complex phenotypes

被引：4

作者：

Baets, Jonathan ^{[2
,3
,4
]}

Timmerman, Vincent ^{[1
,3
]}

机构：

[1] Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium

[2] Univ Antwerp, Neurogenet Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium

[3] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium

[4] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

来源：

BRAIN | 2011年 / 134卷

关键词：

CUTIS LAXA; MACULAR DEGENERATION; HEREDITARY MOTOR; MUTATIONS; FIBULIN-5; DUPLICATION;

D O I：

10.1093/brain/awr114

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1587 / 1590

页数：4

共 22 条

[1] Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [J].

Auer-Grumbach, Michaela ;

Weger, Martin ;

Fink-Puches, Regina ;

Papic, Lea ;

Froehlich, Eleonore ;

Auer-Grumbach, Piet ;

El Shabrawi-Caelen, Laila ;

Ttl, Maria Schabhu ;

Windpassinger, Christian ;

Senderek, Jan ;

Budka, Herbert ;

Trajanoski, Slave ;

Janecke, Andreas R. ;

Haas, Anton ;

Metze, Dieter ;

Pieber, Thomas R. ;

Guelly, Christian .

BRAIN, 2011, 134 :1839-1852

[2] Role of integrins in peripheral nerves and hereditary neuropathies [J].

Berti, Caterina ;

Nodari, Alessandro ;

Wrabetz, Lawrence ;

Feltri, Maria Laura .

NEUROMOLECULAR MEDICINE, 2006, 8 (1-2) :191-204

[3] CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene [J].

Chen, D. -H. ;

Sul, Y. ;

Weiss, M. ;

Hillel, A. ;

Lipe, H. ;

Wolff, J. ;

Matsushita, M. ;

Raskind, W. ;

Bird, T. .

NEUROLOGY, 2010, 75 (22) :1968-1975

[4] Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study [J].

Dierick, Ines ;

Baets, Jonathan ;

Irobi, Joy ;

Jacobs, An ;

De Vriendt, Els ;

Deconinck, Tine ;

Merlini, Luciano ;

Van den Bergh, Peter ;

Rasic, Vedrana Milic ;

Robberecht, Wim ;

Fischer, Dirk ;

Morales, Raul Juntas ;

Mitrovic, Zoran ;

Seeman, Pavel ;

Mazanec, Radim ;

Kochanski, Andrzej ;

Jordanova, Albena ;

Auer-Grumbach, Michaela ;

Helderman-van den Enden, A. T. J. M. ;

Wokke, John H. J. ;

Nelis, Eva ;

De Jonghe, Peter ;

Timmerman, Vincent .

BRAIN, 2008, 131 :1217-1227

[5]

Dyck PJ., 1993, PERIPHERAL NEUROPATH, V3rd, P1065

[6] Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I [J].

Guelly, Christian ;

Zhu, Peng-Peng ;

Leonardis, Lea ;

Papic, Lea ;

Zidar, Janez ;

Schabhuettl, Maria ;

Strohmaier, Heimo ;

Weis, Joachim ;

Strom, Tim M. ;

Baets, Jonathan ;

Willems, Jan ;

De Jonghe, Peter ;

Reilly, Mary M. ;

Froehlich, Eleonore ;

Hatz, Martina ;

Trajanoski, Slave ;

Pieber, Thomas R. ;

Janecke, Andreas R. ;

Blackstone, Craig ;

Auer-Grumbach, Michaela .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (01) :99-105

[7] THE CLINICAL-FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I AND TYPE-II [J].

HARDING, AE ;

THOMAS, PK .

BRAIN, 1980, 103 (JUN) :259-280

[8]

HARDING AE, 1993, PERIPHERAL NEUROPATH, P1051

[9] Structural Effects of Fibulin 5 Missense Mutations Associated with Age-Related Macular Degeneration and Cutis Laxa [J].

Jones, Richard P. O. ;

Ridley, Caroline ;

Jowitt, Thomas A. ;

Wang, Ming-Chuan ;

Howard, Marjorie ;

Bobola, Nicoletta ;

Wang, Tao ;

Bishop, Paul N. ;

Kielty, Cay M. ;

Baldock, Clair ;

Lotery, Andrew J. ;

Trump, Dorothy .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (05) :2356-2362

[10] Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa [J].

Loeys, B ;

Van Maldergem, L ;

Mortier, G ;

Coucke, P ;

Gerniers, S ;

Naeyaert, JM ;

De Paepe, A .

HUMAN MOLECULAR GENETICS, 2002, 11 (18) :2113-2118

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