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Orphanet Journal of Rare Diseases|October 19, 2013
Niemann-Pick disease type C symptomatology: an expert-based clinical descriptionEugen Mengel, Hans-Hermann Klünemann, Charles M Lourenço, et al.
Neurogenetics|August 26, 2009
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypesSilmara P Gouvea, Vinícius H S Borghetti, Keity C Bueno, et al.
Journal of the Peripheral Nervous System : JPNS|May 24, 2019
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth diseaseSilmara P Gouvea, Pedro J Tomaselli, Luiza S Barretto, et al.
Muscle & Nerve|September 30, 2010
Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathyWilson Marques, Carolina A R Funayama, Juliana B Secchin, et al.
Journal of the Peripheral Nervous System : JPNS|April 3, 2012
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndromeCharles M Lourenço, Nicolas Dupré, Jean-Baptiste Rivière, et al.
Journal of Inherited Metabolic Disease|April 5, 2019
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylationBobby G Ng, Charles M Lourenço, Marie-Estelle Losfeld, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagiaCarla S D'Angelo, Ilana Kohl, Monica Castro Varela, et al.
Molecular Genetics and Metabolism Reports|March 25, 2021
Evaluation of 3-<i>O</i>-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian casesFrancyne Kubaski, Zackary M Herbst, Danilo A A Pereira, et al.
Clinical Nephrology|March 30, 2013
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular diseaseElen A Romão, Charles M Lourenço, Wilson Marques Júnior, et al.
Molecular Genetics and Metabolism Reports|January 18, 2024
Corrigendum to "Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases" [27/100744/2021/ pages: 1-4]Francyne Kubaski, Zackary M Herbst, Danilo A A Pereira, et al.
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