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Authors:
Kennerson, Marina L
| Yiu, Eppie M
| Züchner, Stephan
| Ryan, Monique M
| Nicholson, Garth A
| Chuang, David T
| Kidambi, Aditi
| Tso, Shih-Chia
| Ly, Carolyn
| Chaudhry, Rabia
| Drew, Alexander P
| Rance, Gary
| Delatycki, Martin B
Date: 2013
Subject Keyword:
110300 Clinical Sciences
| 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314702
Description:
Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage anal
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Authors:
Landoure, Guida
| Zhu, Peng-Peng
| Pierson, Tyler M
| Ishiura, Hiroyuki
| Tsuji, Shoji
| Hein, Nichole
| Fink, John K
| Stoll, Marion
| Nicholson, Garth
| Gonzalez, Michael A
| Speziani, Fiorella
| Dürr, Alexandra
| Lourenco, Charles M
| Stevanin, Giovanni
| Biesecker, Leslie G
| Accardi, John
| Landis, Dennis M. D
| Gahl, William A
| Traynor, Bryan J
| Marques, Wilson
| Züchner, Stephan
| Blackstone, Craig
| Fischbeck, Kenneth H
| Johnson, Janel O
| Burnett, Barrington G
| Toro, Camilo
| Bricceno, Katherine V
| Rinaldi, Carlo
| Meilleur, Katherine G
| Sangaré, Modibo
| Diallo, Oumarou
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314835
Description:
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.
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Authors:
McLaughlin, Heather M
| Sakaguchi, Reiko
| Kennerson, Marina
| Hou, Ya-Ming
| Nicholson, Garth
| Antonellis, Anthony
| Giblin, William
| Wilson, Thomas E
| Biesecker, Leslie
| Lupski, James R
| Talbot, Kevin
| Vance, Jeffery M
| Züchner, Stephan
| Lee, Yi-Chung
Date: 2012
Subject Keyword:
110300 Clinical Sciences
| AARS
| Axonopathy
| Charcot-Marie-Tooth disease
| CMT2N
| Peripheral neuropathy
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314652
Description:
Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encodin
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