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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Published in:
2017
By:
- Schöls, Ludger;
- Rattay, Tim W.;
- Martus, Peter;
- Meisner, Christoph;
- Baets, Jonathan;
- Fischer, Imma;
- Jägle, Christine;
- Fraidakis, Matthew J.;
- Martinuzzi, Andrea;
- Saute, Jonas Alex;
- Scarlato, Marina;
- Antenora, Antonella;
- Stendel, Claudia;
- Höflinger, Philip;
- Lourenco, Charles Marques;
- Abreu, Lisa;
- Smets, Katrien;
- Paucar, Martin;
- Deconinck, Tine;
- Bis, Dana M.
Publication type:
journal article
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.
Published in:
2016
By:
- Fraidakis, Matthew J.;
- Brunetti, Maura;
- Blackstone, Craig;
- Filippi, Massimo;
- Chiò, adriano
Publication type:
Case Study
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02666-w
By:
- Mou, Yongchao;
- Nandi, Ghata;
- Mukte, Sukhada;
- Chai, Eric;
- Chen, Zhenyu;
- Nielsen, Jorgen E.;
- Nielsen, Troels T.;
- Criscuolo, Chiara;
- Blackstone, Craig;
- Fraidakis, Matthew J.;
- Li, Xue-Jun
Publication type:
Article
Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid.
Published in:
2010
By:
- Bonnot O;
- Fraidakis MJ;
- Lucanto R;
- Chauvin D;
- Kelley N;
- Plaza M;
- Dubourg O;
- Lyon-Caen O;
- Sedel F;
- Cohen D;
- Bonnot, Olivier;
- Fraidakis, Matthew J;
- Lucanto, Raffaella;
- Chauvin, Dominique;
- Kelley, Nathalie;
- Plaza, Monique;
- Dubourg, Odile;
- Lyon-Caen, Olivier;
- Sedel, Frédéric;
- Cohen, David
Publication type:
journal article
Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid.
Published in:
2010
By:
- Bonnot, Olivier;
- Fraidakis, Matthew J.;
- Lucanto, Raffaella;
- Chauvin, Dominique;
- Kelley, Nathalie;
- Plaza, Monique;
- Dubourg, Odile;
- Lyon-Caen, Olivier;
- Sedel, Frédéric;
- Cohen, David
Publication type:
Case Study

Found: 5

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.

Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid.

Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid.