S. Alves - Dissemin

Papers authored by S. Alves

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2019 Elisa Leão Teles, Sandra Alves

, Anabela Oliveira, Carla Pereira, Esmeralda Martins, Hélder Duarte, Jorge Rodrigues, A. L. Et

Comissão Coordenadora do Tratamento das Doenças Lisossomais de Sobrecarga - outubro 2016 a dezembro 2017

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Sandra Alves

Santos JI, C outinho MF, Gaspar P, Alves S. Genetically Modulated Substrate Reduction Therapy for Sanfilippo Syndrome - Proof of Principle. 14th International Symposium SPDM. Oral Communication. March 2018. Porto. Portugal.

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2018 Liliana Matos, Ana Joana Duarte, Diogo Ribeiro, João Chaves, Olga Amaral

, Sandra Alves

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

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Sandra Alves

Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. Journal of Integrated OMICS 2018, 8(2): 1-21. 2nd International Caparica Conference in Splicing, Costa da Caparica - Portugal"

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Sandra Alves

Matos L, Vilela R, C outinho MF, Gaspar P, Alves S. Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC . 14th International Symposium SPDM. Oral Communication. March 2018. Porto, Portugal.

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2017 Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations

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Maria Francisca Coutinho, Juliana Inês Santos, Sandra Alves

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065

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Sandra Alves

Sandra Alves. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 21st Annual Meeting SPGH. November 2017. Almada.

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Sandra Alves

Coutinho MF, Santos JI, Matos L, Alves S. Genetically modulated SRT therapy. 11th Brains4Brain Workshop. Oral Communication. March 2017. Frankfurt, Germany.

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Sandra Alves

Matos L, Vilela R, C outinho MF, Gaspar P, Alves S. Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_35044delTC . 21st Annual Meeting SPGH. Oral Communication. November, 2017. Almada, Portugal.

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Sandra Alves

Matos L, Gonçalves V, C anals I, Jordan P, Grinberg D, Pérez B, Prata MJ, Alves S. Splicing therapeutics for patients affected by Lysosomal Storage Disorders. 2nd day of young researcher of National Health Institute Dr. Ricardo Jorge, Lisbon - Portugal, May 2017.

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Sandra Alves

Coutinho MF, Santos JI, Alves S. Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in Mucopolysaccharidoses. 13th International Symposium SPDM. Oral Communication. March 2017. Évora, Portugal.

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Sandra Alves

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Nogueira C , Vilarinho L, Alves S. Neurodegenerative Lysosomal diseases Approached by Next Generation Sequencing. 21st Annual Meeting SPGH. Oral Communication. November, 2017. Almada, Portugal.

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2016 Maria Coutinho, Juliana Santos, Liliana Matos

, Sandra Alves

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders

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Ankur Singh, Rajniti Prasad, Aditya Kumar Gupta, Anil Sharma, Sandra Alves

, Maria Francisca Coutinho, Seema Kapoor, Om Prakash Mishra

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

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Maria Coutinho

, Juliana Santos, Sandra Alves

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

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Sandra Alves

Matos L, Coutinho F, Duarte J, Santos JI, Amaral O, Alves S. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 12th SPDM (Portuguese Society of Metabolic Diseases) International Symposium. Oral Communication. March 2016. Coimbra, Portugal.

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Maria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, Lúcia Lacerda, Maria João Prata

, Sandra Alves

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

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2015 Liliana Matos, Vânia Gonçalves, Eugénia Pinto, Francisco Laranjeira, Maria João Prata

, Peter Jordan, Lourdes R. Desviat

, Belén Pérez, Sandra Alves

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

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Maria Francisca Coutinho

, Sandra Alves

From Rare to Common and back again 60years of lysosomal dysfunction

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Papers authored by S. Alves