Publications by authors named "Maria J Coll"

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Maria Jose Coll

Orphanet J Rare Dis· February 2022

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Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Luisa Sisinni, Mercedes Pineda, Maria Josep Coll, Laura Gort, Eulalia Turon

Pediatr Transplant· November 2018

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Consensus clinical management guidelines for Niemann-Pick disease type C.
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Maria J Coll

Orphanet J Rare Dis· April 2018

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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Marie T Vanier, Paul Gissen, Peter Bauer, Maria J Coll, Alberto Burlina

Mol Genet Metab· August 2016

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[New mutation in a young woman diagnosed with Niemann-Pick disease type C].
Ana Lario, Carlos de Miguel, Emilio Ojeda, Santiago Gil, María J Coll

Med Clin (Barc)· June 2016

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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, Maria Jose Coll

Hum Mutat· February 2016

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Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
Judit Macías-Vidal, Martina Guerrero-Hernández, Josep Maria Estanyol, Carmen Aguado, Erwin Knecht, Maria Josep Coll

Proteomics· January 2016

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Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
Leslie Matalonga, Ángela Arias, Frederic Tort, Xènia Ferrer-Cortés, Judit Garcia-Villoria, Maria Josep Coll

Neurotherapeutics· October 2015

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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Maria J Coll

J Lipid Res· October 2015

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The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Judit Macías-Vidal, Marisa Girós, Martina Guerrero, Pere Gascón, Joan Serratosa, Maria Josep Coll

FEBS J· October 2014

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The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
María L Couce, Judit Macías-Vidal, Daisy E Castiñeiras, María D Bóveda, José M Fraga, María J Coll

Eur J Med Genet· September 2014

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Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
Leslie Matalonga, Angela Arias, María Josep Coll, Judit Garcia-Villoria, Laura Gort

J Inherit Metab Dis· May 2014

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Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Frederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, Aleix Navarro-Sastre, Judith Garcia-Villoria, Maria Josep Coll

Mol Genet Metab· March 2014

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Natural history of Sanfilippo syndrome in Spain.
Verónica Delgadillo, Maria del Mar O'Callaghan, Laura Gort, Maria Josep Coll, Mercedes Pineda

Orphanet J Rare Dis· December 2013

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Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
Silvia Jesús, María T Cáceres-Redondo, Fátima Carrillo, Isabel Cordones, Miguel Escudero, María J Coll

Parkinsonism Relat Disord· October 2013

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Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.
Laura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, Lluïsa Vilageliu, Daniel Grinberg

JIMD Rep· February 2013

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Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Laura Rodríguez-Pascau, Claudio Toma, Judit Macías-Vidal, Mónica Cozar, Bru Cormand, Maria Josep Coll

Mol Genet Metab· December 2012

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Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening.
Beatriz Lecumberri, Maria Lluisa Girós, Maria Josep Coll, Amparo Marco, Mariano Casado

J Am Acad Dermatol· May 2012

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Laura Rodríguez-Pascau, Maria Josep Coll, Lluïsa Vilageliu, Daniel Grinberg

Hum Mutat· November 2009

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Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
Judit Macías-Vidal, Laura Gort, Montse Lluch, Mercè Pineda, Maria Josep Coll

Mol Genet Metab· May 2009

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Gene symbol: IDS. Disease: Mucopolysaccharidosis II.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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Gene symbol: IDS. Disease: Hunter syndrome.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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