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Coutinho, Maria Francisca
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1

Modeling Lysosomal Storage Disorders in an Innovative Way: ..:

Carvalho, Sofia ; Santos, Juliana Inês ; Moreira, Luciana...
International Journal of Molecular Sciences.  25 (2024)  6 - p. 3546 , 2024
Link: https://doi.org/10.3390/..
 
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2

Development of Engineered-U1 snRNA Therapies: Current Statu:

Gonçalves, Mariana ; Santos, Juliana Inês ; Coutinho, Maria Francisca..
International Journal of Molecular Sciences.  24 (2023)  19 - p. 14617 , 2023
Link: https://doi.org/10.3390/..
 
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3

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Ba..:

Encarnação, Marisa ; David, Hugo ; Coutinho, Maria Francisca..
Biomedicines.  11 (2023)  10 - p. 2615 , 2023
Link: https://doi.org/10.3390/..
 
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4

Challenges in the Definitive Diagnosis of Niemann–Pick Type..:

Encarnação, Marisa ; Ribeiro, Isaura ; David, Hugo...
Genes.  14 (2023)  11 - p. 1990 , 2023
Link: https://doi.org/10.3390/..
 
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5

Neurological Disease Modeling Using Pluripotent and Multipo..:

Carvalho, Sofia ; Santos, Juliana Inês ; Moreira, Luciana...
Biomedicines.  11 (2023)  4 - p. 1234 , 2023
Link: https://doi.org/10.3390/..
 
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6

Splicing Modulation as a Promising Therapeutic Strategy for..:

Santos, Juliana Inês ; Gonçalves, Mariana ; Matos, Liliana...
Life.  12 (2022)  5 - p. 608 , 2022
Link: https://doi.org/10.3390/..
 
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7

Assessing Lysosomal Disorders in the NGS Era: Identificatio..:

Encarnação, Marisa ; Coutinho, Maria Francisca ; Silva, Lisbeth...
International Journal of Molecular Sciences.  21 (2020)  17 - p. 6355 , 2020
Link: https://doi.org/10.3390/..
 
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8

Lysosomal Storage Disease-Associated Neuropathy: Targeting ..:

Coutinho, Maria Francisca ; Santos, Juliana Inês ; S. Mendonça, Liliana...
International Journal of Molecular Sciences.  21 (2020)  16 - p. 5732 , 2020
Link: https://doi.org/10.3390/..
 
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9

Molecular Characterization of a Novel Splicing Mutation Und..:

Coutinho, Maria Francisca ; Encarnação, Marisa ; Matos, Liliana...
Diagnostics.  10 (2020)  2 - p. 58 , 2020
Link: https://doi.org/10.3390/..
 
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10

NPC1 silent variant induces skipping of exon 11 (p.V562V) a..:

Encarnação, Marisa ; Coutinho, Maria Francisca ; Cho, Soo Min...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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11

RNA Therapeutics: How Far Have We Gone?:

, In: The mRNA Metabolism in Human Disease; Advances in Experimental Medicine and Biology,
Coutinho, Maria Francisca ; Matos, Liliana ; Santos, Juliana Inês. - p. 133-177 , 2019
Link: https://doi.org/10.1007/..
 
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12

Update of the spectrum of mucopolysaccharidoses type III in..:

Ouesleti, Souad ; Coutinho, Maria Francisca ; Ribeiro, Isaura...
World Journal of Pediatrics.  13 (2017)  4 - p. 374-380 , 2017
Link: https://doi.org/10.1007/..
 
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13

From rare to common and back again: 60years of lysosomal dy..:

Coutinho, Maria Francisca ; Alves, Sandra
Molecular Genetics and Metabolism.  117 (2016)  2 - p. 53-65 , 2016
Link: https://doi.org/10.1016/..
 
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14

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screenin..:

Singh, Ankur ; Prasad, Rajniti ; Gupta, Aditya Kumar...
The Indian Journal of Pediatrics.  84 (2016)  2 - p. 144-146 , 2016
Link: https://doi.org/10.1007/..
 
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15

From bedside to cell biology: A century of history on lysos..:

Coutinho, Maria Francisca ; Matos, Liliana ; Alves, Sandra
Gene.  555 (2015)  1 - p. 50-58 , 2015
Link: https://doi.org/10.1016/..
 
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