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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Published in:
Annals of Neurology, 2006, v. 59, n. 2, p. 276
By:
- Stephan Züchner;
- Peter De Jonghe;
- Albena Jordanova;
- Kristl G. Claeys;
- Velina Guergueltcheva;
- Sylvia Cherninkova;
- Steven R. Hamilton;
- Greg Van Stavern;
- Karen M. Krajewski;
- Jeffery Stajich;
- Ivajlo Tournev;
- Kristien Verhoeven;
- Christine T. Langerhorst;
- Marianne de Visser;
- Frank Baas;
- Thomas Bird;
- Vincent Timmerman;
- Michael Shy;
- Jeffery M. Vance
Publication type:
Article
T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy.
Published in:
Annals of Neurology, 2006, v. 59, n. 2, p. 358
By:
- Michael E. Shy;
- Mena T. Scavina;
- Alisa Clark;
- Karen M. Krajewski;
- Jun Li;
- John Kamholz;
- Edwin Kolodny;
- Kinga Szigeti;
- Richard A. Fischer;
- Gulam Mustafa Saifi;
- Steven S. Scherer;
- James R. Lupski
Publication type:
Article
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Published in:
Annals of Neurology, 2002, v. 52, n. 4, p. 429, doi. 10.1002/ana.10305
By:
- Paulson, Henry L.;
- Garbern, James Y.;
- Hoban, Timothy F.;
- Krajewski, Karen M.;
- Lewis, Richard A.;
- Fischbeck, Kenneth H.;
- Grossman, Robert I.;
- Lenkinski, Robert;
- Kamholz, John A.;
- Shy, Michael E.
Publication type:
Article