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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 6677 - 10
Journal Article
Muscle & Nerve, ISSN 0148-639X, 02/2017, Volume 55, Issue 2, pp. 290 - 291
Journal Article
Muscle & Nerve, ISSN 0148-639X, 02/2017, Volume 55, Issue 2, pp. 290 - 291
Journal Article
MUSCLE & NERVE, ISSN 0148-639X, 02/2017, Volume 55, Issue 2, pp. 290 - 291
Journal Article
The Lancet, ISSN 0140-6736, 02/2018, Volume 391, Issue 10121, pp. 659 - 667
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, p. e0178376
Objective Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease... 
RELAPSING MULTIPLE-SCLEROSIS | FREE-TRYPTOPHAN | ORAL FINGOLIMOD | CMT NEUROPATHY SCORE | MULTIDISCIPLINARY SCIENCES | DISEASE | PHENOTYPE | CHAIN AMINO-ACIDS | PLACEBO-CONTROLLED TRIAL | CANCER | EXERCISE | Biomarkers - metabolism | Metabolomics | Prospective Studies | Skin - metabolism | Humans | Middle Aged | Biomarkers - analysis | Metabolome | Proteins - analysis | Biomarkers - blood | Charcot-Marie-Tooth Disease - pathology | Proteins - metabolism | Energy Metabolism | Adult | Charcot-Marie-Tooth Disease - metabolism | Charcot-Marie-Tooth Disease - blood | Skin - pathology | Development and progression | Skin | Diagnosis | Health aspects | Charcot-Marie-Tooth disease | Therapy | Plasma | Energy metabolism | Multiple sclerosis | Nuclear magnetic resonance--NMR | Lipids | Amino acids | Leucine | Neuropathy | Protein turnover | Proteins | Coupling (molecular) | Sarcopenia | Mitochondria | Metabolites | Water analysis | Classification | Longitudinal studies | Lipid metabolism | Discriminant analysis | Markers | Mass spectroscopy | Liquid chromatography | Metabolism | Patients | Studies | Protein arrays | Depletion | Biopsy | Protein synthesis | Correlation analysis | Biomarkers | Catabolism | Mass spectrometry | Malalties hereditàries | Amiotròfia neural progressiva de Charcot-Marie-Tooth | Genetic diseases | Nuclear magnetic resonance | NMR
Journal Article
BMC Neurology, ISSN 1471-2377, 05/2016, Volume 16, Issue 1, p. 75
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, p. jmedgenet-2019-106373
BackgroundSince 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the... 
Journal Article
by Howard, James F and Utsugisawa, Kimiaki and Benatar, Michael and Murai, Hiroyuki and Barohn, Richard J and Illa, Isabel and Jacob, Saiju and Vissing, John and Burns, Ted M and Kissel, John T and Muppidi, Srikanth and Nowak, Richard J and O'Brien, Fanny and Wang, Jing-Jing and Mantegazza, Renato and Mazia, Claudio Gabriel and Wilken, Miguel and Ortea, Carolina and Saba, Juliet and Rugiero, Marcelo and Bettini, Mariela and Vidal, Gonzalo and Vidal, Nuria and Garcia, Rebekah and Garcia, Sonia and Garcia, Alejandra Dalila and Lamont, Phillipa and Leong, Wai-Kuen and Boterhoven, Heidi and Fyfe, Beverly and Roberts, Leslie and Jasinarachchi, Mahi and Willlems, Natasha and Wanschitz, Julia and Löscher, Wolfgang and De Bleecker, Jan and Van den Abeele, Guy and de Koning, Kathy and De Mey, Katrien and Mercelis, Rudy and Wagemaekers, Linda and Mahieu, Delphine and Van Damme, Philip and Smetcoren, Charlotte and Stevens, Olivier and Verjans, Sarah and D'Hondt, Ann and Tilkin, Petra and Alves de Siqueira Carvalho, Alzira and Hasan, Rosa and Dias Brockhausen, Igor and Feder, David and Ambrosio, Daniel and Melo, Ana Paula and Rocha, Rosana and Rosa, Bruno and Veiga, Thabata and Augusto da Silva, Luiz and Gonçalves Geraldo, Jordana and da Penha Morita Ananias, Maria and Nogueira Coelho, Erica and Paiva, Gabriel and Pozo, Marina and Prando, Natalia and Dada Martineli Torres, Debora and Fernanda Butinhao, Cristiani and Coelho, Erica and Renata Cubas Volpe, Luciana and Duran, Gustavo and Gomes da Silva, Tamires Cristina and Otavio Maia Gonçalves, Luiz and Pazetto, Lucas Eduardo and Souza Duca, Luciana and Suriane Fialho, Tomás Augusto and Gheller Friedrich, Maurício André and Guerreiro, Alexandre and Mohr, Henrique and Pereira Martins, Maurer and da Cruz Pacheco, Daiane and Macagnan, Ana Paula and de Cassia Santos, Aline and Bulle Oliveira, Acary Souza and Amaral de Andrade, Ana Carolina and Annes, Marcelo and Cavalcante Lino, Valeria and Pinto, Wladimir and Miranda, Carolina and Carrara, Fernanda and Souza, Iandra and Genge, Angela and Massie, Rami and Campbell, Natasha and Bril, Vera and Katzberg, Hans and Soltani, Mehran and Ng, Eduardo and Siddiqi, Zaeem and Phan, Celile and Blackmore, Derrick and Vohanka, Stanislav and ... and REGAIN Study Grp and REGAIN Study Group
The Lancet Neurology, ISSN 1474-4422, 12/2017, Volume 16, Issue 12, pp. 976 - 986
Journal Article
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, ISSN 1933-7213, 05/2019, pp. 1 - 16
X-Adrenoleukodystrophy (X-ALD) and its adult-onset, most prevalent variant adrenomyeloneuropathy (AMN) are caused by mutations in the peroxisomal transporter... 
Oxidative stress | Conduction | Lipoic acid | Animal models | Spastic paraparesis | Clinical trials | Acetylcysteine | Homeostasis | Inflammation | Patients | Antioxidants | Adrenoleukodystrophy | Magnetic resonance imaging | Biomarkers
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, pp. 1240 - 1256
Journal Article