Works by Maranda, Bruno

Results: 25

Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00094-x

By:

Fois, Adrien;
Deschênes, Sonia;
Bourel, Capucine;
Beauchamp, Claudine;
Lombard-Vadnais, Félix;
Ruiz, Matthieu;
Charron, Guy;
Coderre, Lise;
Des Rosiers, Christine;
Alikashani, Azadeh;
Allen, Bruce G.;
Aubut, Chantale;
Bémeur, Chantal;
Burelle, Yan;
Labarthe, François;
Landry, Jeannine;
Laprise, Catherine;
Lavallée, Geneviève;
Lavoie, Pierre;
Maranda, Bruno

Publication type:

Article

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.

Published in:

2020

By:

Moisan, Lina;
Iannuzzi, David;
Maranda, Bruno;
Campeau, Philippe M.;
Mitchell, John J.

Publication type:

journal article

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.

Published in:

Pediatric Radiology, 2013, v. 43, n. 9, p. 1227, doi. 10.1007/s00247-013-2658-5

By:

Benabu, Yves;
Beland, Mathieu;
Ferguson, Natasha;
Maranda, Bruno;
Boucher, Renee-Myriam

Publication type:

Article

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3223, doi. 10.3390/ijms24043223

By:

Boutin, Michel;
Lavoie, Pamela;
Beaudon, Margot;
Kabala Ntumba, Georges;
Bichet, Daniel G.;
Maranda, Bruno;
Auray-Blais, Christiane

Publication type:

Article

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6114, doi. 10.3390/ijms21176114

By:

Boutin, Michel;
Lavoie, Pamela;
Menkovic, Iskren;
Toupin, Amanda;
Abaoui, Mona;
Elidrissi-Elawad, Maha;
Arthus, Marie-Françoise;
Fortier, Carole;
Ménard, Claudia;
Maranda, Bruno;
Bichet, Daniel G.;
Auray-Blais, Christiane

Publication type:

Article

Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis.

Published in:

Metabolomics, 2025, v. 21, n. 2, p. 1, doi. 10.1007/s11306-025-02233-3

By:

Farjallah, Asma;
Maranda, Bruno;
Giugliani, Roberto;
Auray-Blais, Christiane

Publication type:

Article

Clinical Vignette: Clinical and Cellular Manifestations of OSTM1 -Related Infantile Osteopetrosis.

Published in:

Journal of Bone & Mineral Research, 2008, v. 23, n. 2, p. 296, doi. 10.1359/jbmr.071015

By:

Maranda, Bruno;
Chabot, Gilles;
Décarie, Jean-Claude;
Pata, Monica;
Azeddine, Bouziane;
Moreau, Alain;
Vacher, Jean

Publication type:

Article

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Published in:

2016

By:

Lévesque, Sébastien;
Auray-Blais, Christiane;
Gravel, Elaine;
Boutin, Michel;
Dempsey-Nunez, Laura;
Jacques, Pierre-Etienne;
Chenier, Sébastien;
Larue, Sandrine;
Rioux, Marie-France;
Al-Hertani, Walla;
Nadeau, Amelie;
Mathieu, Jean;
Maranda, Bruno;
Désilets, Valérie;
Waters, Paula J.;
Keutzer, Joan;
Austin, Stephanie;
Kishnani, Priya

Publication type:

journal article

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203

By:

Pennisi, Alessandra;
Maranda, Bruno;
Benoist, Jean‐François;
Baudouin, Véronique;
Rigal, Odile;
Pichard, Samia;
Santer, René;
Romana Lepri, Francesca;
Novelli, Antonio;
Ogier de Baulny, Hélène;
Dionisi‐Vici, Carlo;
Schiff, Manuel

Publication type:

Article

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 107, doi. 10.1002/jimd.12032

By:

Levtova, Alina;
Waters, Paula J.;
Buhas, Daniela;
Lévesque, Sébastien;
Auray‐Blais, Christiane;
Clarke, Joe T.R.;
Laframboise, Rachel;
Maranda, Bruno;
Mitchell, Grant A.;
Brunel‐Guitton, Catherine;
Braverman, Nancy E.

Publication type:

Article

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9

By:

Wortmann, Saskia;
Chen, Margaret;
Colombo, Roberto;
Pontoglio, Alessandro;
Alhaddad, Bader;
Botto, Lorenzo;
Yuzyuk, Tatiana;
Coughlin, Curtis;
Descartes, Maria;
Grűnewald, Stephanie;
Maranda, Bruno;
Mills, Philippa;
Pitt, James;
Potente, Catherine;
Rodenburg, Richard;
Kluijtmans, Leo;
Sampath, Srirangan;
Pai, Emil;
Wevers, Ron;
Tiller, George

Publication type:

Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824

By:

Wong, Lee-Jun C.;
Naviaux, Robert K.;
Brunetti-Pierri, Nicola;
Zhang, Qing;
Schmitt, Eric S.;
Truong, Cavatina;
Milone, Margherita;
Cohen, Bruce H.;
Wical, Beverly;
Ganesh, Jaya;
Basinger, Alice A.;
Burton, Barbara K.;
Swoboda, Kathryn;
Gilbert, Donald L.;
Vanderver, Adeline;
Saneto, Russell P.;
Maranda, Bruno;
Arnold, Georgianne;
Abdenur, Jose E.;
Waters, Paula J.

Publication type:

Article

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 12, p. 1612, doi. 10.3390/biom14121612

By:

Martineau, Tristan;
Maranda, Bruno;
Auray-Blais, Christiane

Publication type:

Article

A survey of APC mutations in Quebec.

Published in:

Familial Cancer, 2011, v. 10, n. 4, p. 659, doi. 10.1007/s10689-011-9468-4

By:

Jarry, Jonathan;
Brunet, Jean-Sébastien;
Laframboise, Rachel;
Drouin, Régen;
Latreille, Jean;
Richard, Carole;
Gekas, Jean;
Maranda, Bruno;
Monczak, Yury;
Wong, Nora;
Pouchet, Carly;
Zaor, Sonya;
Kasprzak, Lidia;
Palma, Laura;
Wu, Mona;
Tischkowitz, Marc;
Foulkes, William;
Chong, George

Publication type:

Article

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 896, doi. 10.1002/ajmg.a.37428

By:

Ayub, Seemi;
Gadji, Macoura;
Krabchi, Kada;
Côté, Sylvie;
Gekas, Jean;
Maranda, Bruno;
Drouin, Régen

Publication type:

Article

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1272, doi. 10.1002/ajmg.a.33878

By:

Shinawi, Marwan;
Sahoo, Trilochan;
Maranda, Bruno;
Skinner, S.A.;
Skinner, Cindy;
Chinault, Craig;
Zascavage, Roxanne;
Peters, Sarika U.;
Patel, Ankita;
Stevenson, Roger E.;
Beaudet, Arthur L.

Publication type:

Article

Familial deletion 18p syndrome: case report.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 60, doi. 10.1186/1471-2350-7-60

By:

Maranda, Bruno;
Lemieux, Nicole;
Lemyre, Emmanuelle

Publication type:

Article

Analysis of Globotriaosylceramide (Gb<sub>3</sub>) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.

Published in:

Current Protocols, 2024, v. 4, n. 6, p. 1, doi. 10.1002/cpz1.1087

By:

Boutin, Michel;
Maranda, Bruno;
Waters, Paula J.

Publication type:

Article

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 433, doi. 10.1002/jmd2.12447

By:

Cyr, Denis;
Boutin, Michel;
Maranda, Bruno;
Waters, Paula J.

Publication type:

Article

A case of hyperlysinemia identified by urine newborn screening.

Published in:

2023

By:

Yeganeh, Mehdi;
Auray‐Blais, Christiane;
Maranda, Bruno;
Sabovic, Amanda;
DeVita, Robert J.;
Lazarus, Michael B.;
Houten, Sander M.

Publication type:

Case Study

Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 46, doi. 10.1002/jmd2.12008

By:

Goudie, Catherine;
Alayoubi, Abdulfatah M.;
Tibout, Pauline;
Duval, Michel;
Maranda, Bruno;
Mitchell, David;
Mitchell, John J.

Publication type:

Article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Published in:

International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319

By:

Hamdan, Fadi F.;
Perrault, Isabelle;
Rio, Marlène;
Capo-Chichi, José-Mario;
Boddaert, Nathalie;
Décarie, Jean-Claude;
Maranda, Bruno;
Nabbout, Rima;
Sylvain, Michel;
Lortie, Anne;
Roux, Philippe P.;
Rossignol, Elsa;
Gérard, Xavier;
Barcia, Giulia;
Berquin, Patrick;
Munnich, Arnold;
Rouleau, Guy A.;
Kaplan, Josseline;
Rozet, Jean-Michel;
Michaud, Jacques L.

Publication type:

Article

Receptor-mediated endocytosis in kidney proximal tubules: Recent advances and hypothesis.

Published in:

Electrophoresis, 1997, v. 18, n. 14, p. 2661, doi. 10.1002/elps.1150181423

By:

Marshansky, Vladimir;
Bourgoin, Sylvain;
Londoño, Irene;
Bendayan, Moïse;
Maranda, Bruno;
Vinay, Patrick

Publication type:

Article

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186

By:

Kranendijk, Martijn;
Struys, Eduard A.;
Gibson, K. Michael;
Wickenhagen, Wjera V.;
Abdenur, Jose E.;
Buechner, Jochen;
Christensen, Ernst;
de Kremer, Raquel Dodelson;
Errami, Abdellatif;
Gissen, Paul;
Gradowska, Wanda;
Hobson, Emma;
Islam, Lily;
Korman, Stanley H.;
Kurczynski, Thaddeus;
Maranda, Bruno;
Meli, Concetta;
Rizzo, Cristiano;
Sansaricq, Claude;
Trefz, Friedrich K.

Publication type:

Article

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000

By:

Waters, Paula J.;
Lace, Baiba;
Buhas, Daniela;
Gravel, Serge;
Cyr, Denis;
Boucher, Renée‐Myriam;
Bernard, Geneviève;
Lévesque, Sébastien;
Maranda, Bruno

Publication type:

Article