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Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
Published in:
Journal of Neurology, 2016, v. 263, n. 3, p. 467, doi. 10.1007/s00415-015-7989-8
By:
- Thomas, Florian;
- Guergueltcheva, Velina;
- Gondim, Francisco;
- Tournev, Ivailo;
- Rao, Chitharanjan;
- Ishpekova, Boryana;
- Kinsella, Laurence;
- Pan, Yi;
- Geller, Thomas;
- Litvinenko, Ivan;
- Jonghe, Peter;
- Scherer, Steven;
- Jordanova, Albena
Publication type:
Article
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).
Published in:
Journal of Child Neurology, 2006, v. 21, n. 1, p. 20, doi. 10.1177/08830738060210010401
By:
- Guergueltcheva, Velina;
- Tournev, Ivailo;
- Bojinova, Veneta;
- Hantke, Janina;
- Litvinenko, Ivan;
- Ishpekova, Boryana;
- Shmarov, Alexander;
- Petrova, Julia;
- Jordanova, Albena;
- Kalaydjieva, Luba
Publication type:
Article
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations.
Published in:
Annals of Neurology, 1999, v. 45, n. 6, p. 742, doi. 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N
By:
- Tournev, Ivailo;
- Kalaydjieva, Luba;
- Youl, Bryan;
- Ishpekova, Boryana;
- Guergueltcheva, Velina;
- Kamenov, Ognian;
- Katzarova, Maria;
- Kamenov, Zdravko;
- Raicheva-Terzieva, Margarita;
- King, R. H. M.;
- Romanski, Kiril;
- Petkov, Radoslav;
- Schmarov, Alexander;
- Dimitrova, Galina;
- Popova, Nevena;
- Uzunova, Maria;
- Milanov, Stephen;
- Petrova, Julia;
- Petkov, Yanko;
- Kolarov, Georgi
Publication type:
Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article

Found: 5

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations.

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).

Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.