Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.57-57, Article 57
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
Author / Creator:Medina-Cano, Daniel ; Ucuncu, Ekin ; Nguyen, Lam Son ; Nicouleau, Michael ; Lipecka, Joanna ; Bizot, Jean-Charles ; Thiel, Christian ; Foulquier, François ; Lefort, Nathalie ; Faivre-Sarrailh, Catherine ; Colleaux, Laurence ; Guerrera, Ida Chiara ; Cantagrel, Vincent
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2018-10, Vol.7
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator:Megahed, Hisham ; Nicouleau, Michaël ; Barcia, Giulia ; Medina-Cano, Daniel ; Siquier-Pernet, Karine ; Bole-Feysot, Christine ; Parisot, Mélanie ; Masson, Cécile ; Nitschké, Patrick ; Rio, Marlène ; Bahi-Buisson, Nadia ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Colleaux, Laurence ; Cantagrel, Vincent
Publisher:BioMed Central
Journal title:Orphanet journal of rare diseases, 2015-12, Vol.11 (1)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 2; peer review: 2 approved] Identific...
Author / Creator:Carl Laflamme ; Sara González Bolívar ; Michael Nicouleau ; Kathleen Southern ; Riham Ayoubi
Publisher:F1000 Research Ltd
Journal title:F1000 research, 2024-09, Vol.12
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 1; peer review: awaiting peer review]
Author / Creator:Ayoubi, Riham ; González Bolívar, Sara ; Nicouleau, Michael ; Southern, Kathleen ; Laflamme, Carl
Journal title:F1000 research, 2023, Vol.12, p.1279
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 2; peer review: 1 approved, 1 approve...
Author / Creator:Ayoubi, Riham ; González Bolívar, Sara ; Nicouleau, Michael ; Southern, Kathleen ; Laflamme, Carl
Publisher:England: Faculty of 1000 Ltd
Journal title:F1000 research, 2023, Vol.12, p.1279
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
An Inducible Luminescent System to Explore Parkinson’s Disease-Associated Genes
Author / Creator:Gandy, Anelya ; Maussion, Gilles ; Al-Habyan, Sara ; Nicouleau, Michael ; You, Zhipeng ; Chen, Carol X.-Q. ; Abdian, Narges ; Aprahamian, Nathalia ; Krahn, Andrea I. ; Larocque, Louise ; Durcan, Thomas M. ; Deneault, Eric
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-09, Vol.25 (17), p.9493
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Author / Creator:Perrault, Isabelle ; Hanein, Sylvain ; Zanlonghi, Xavier ; Serre, Valérie ; Nicouleau, Michael ; Defoort-Delhemmes, Sabine ; Delphin, Nathalie ; Fares-Taie, Lucas ; Gerber, Sylvie ; Xerri, Olivia ; Edelson, Catherine ; Goldenberg, Alice ; Duncombe, Alice ; Le Meur, Gylène ; Hamel, Christian ; Silva, Eduardo ; Nitschke, Patrick ; Calvas, Patrick ; Munnich, Arnold ; Roche, Olivier ; Dollfus, Hélène ; Kaplan, Josseline ; Rozet, Jean-Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-09, Vol.44 (9), p.975-977
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models
Author / Creator:Maussion, Gilles ; Rocha, Cecilia ; Abdian, Narges ; Yang, Dimitri ; Turk, Julien ; Carrillo Valenzuela, Dulce ; Pimentel, Luisa ; You, Zhipeng ; Morquette, Barbara ; Nicouleau, Michael ; Deneault, Eric ; Higgins, Samuel ; Chen, Carol X.-Q. ; Reintsch, Wolfgang E. ; Ho, Stanley ; Soubannier, Vincent ; Lépine, Sarah ; Modrusan, Zora ; Lund, Jessica ; Stephenson, William ; Schubert, Rajib ; Durcan, Thomas M.
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-10, Vol.24 (19), p.14926
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Transcriptional Dysregulation and Impaired Neuronal Activity in IFMR1/I Knock-Out and Fragile X Patients’ iPSC-Derived Models
Author / Creator:Maussion, Gilles ; Rocha, Cecilia ; Abdian, Narges ; Yang, Dimitri ; Turk, Julien ; Carrillo Valenzuela, Dulce ; Pimentel, Luisa ; You, Zhipeng ; Morquette, Barbara ; Nicouleau, Michael ; Deneault, Eric ; Higgins, Samuel ; Chen, Carol X.-Q ; Reintsch, Wolfgang E ; Ho, Stanley ; Soubannier, Vincent ; Lépine, Sarah ; Modrusan, Zora ; Lund, Jessica ; Stephenson, William ; Schubert, Rajib ; Durcan, Thomas M
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-10, Vol.24 (19)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Author / Creator:Dorion, Marie-France ; Casas, Diana ; Shlaifer, Irina ; Yaqubi, Moein ; Fleming, Peter ; Karpilovsky, Nathan ; Chen, Carol X.-Q. ; Nicouleau, Michael ; Piscopo, Valerio E. C. ; MacDougall, Emma J. ; Alluli, Aeshah ; Goldsmith, Taylor M. ; Schneider, Alexandria ; Dorion, Samuel ; Aprahamian, Nathalia ; MacDonald, Adam ; Thomas, Rhalena A. ; Dudley, Roy W. R. ; Hall, Jeffrey A. ; Fon, Edward A. ; Antel, Jack P. ; Stratton, Jo Anne ; Durcan, Thomas M. ; La Piana, Roberta ; Healy, Luke M.
Publisher:England: BioMed Central Ltd
Journal title:Molecular neurodegeneration, 2024-04, Vol.19 (1), p.31-31, Article 31
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
Author / Creator:Medina-Cano, Daniel ; Ucuncu, Ekin ; Nguyen, Lam Son ; Nicouleau, Michael ; Lipecka, Joanna ; Bizot, Jean-Charles ; Thiel, Christian ; Foulquier, François ; Lefort, Nathalie ; Faivre-Sarrailh, Catherine ; Colleaux, Laurence ; Guerrera, Ida Chiara ; Cantagrel, Vincent
Publisher:eLife Sciences Publication
Journal title:eLife, 2018-10, Vol.7
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesFull Text
Glucosylceramide induced ectosomes propagate pathogenic α-synuclein in Parkinson's disease
Author / Creator:Jacquemyn, Julie ; Mariott, Brian ; Chang, Jinlan ; Lee, Nathanael Y J ; Rubio Atonal, Luis F ; Green, Ceili ; Wong, Jeremy ; Chik, Kennedi ; Acevedo-Morantes, Claudia ; Chen, Carol X-Q ; Nicouleau, Michael ; You, Zhipeng ; Deneault, Eric ; Abdian, Narges ; Durcan, Thomas M ; Jackson, Jesse ; Ioannou, Maria S
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2025-02
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesFull Text
Mutations in SOD1 induce ALS-related phenotypes in 3D iPSC-derived motor neuron (MN) spheroids
Author / Creator:Castellanos-Montiel, María José ; Franco-Flores, Anna Krystina ; Nicouleau, Michael ; Haghi, Ghazal ; Lépine, Sarah ; Baeza, Belén ; Chen, Carol X-Q ; Taylor Morgan Goldsmith ; Aprahamian, Nathalia ; Hua, Doris ; Chaineau, Mathilde ; Gursu, Lale ; Abdian, Narges ; Deneault, Eric ; Thomas Martin Durcan
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2025-01
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Export this record

Export record to excel

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Export this record

Export record to excel

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Export this record

Export record to excel

Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 2; peer review: 2 approved] Identific...

Export this record

Export record to excel

Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 1; peer review: awaiting peer review]

Export this record

Export record to excel

Identification of high-performing antibodies for SPARC-related modular calcium-binding protein 1 (SMOC-1) for use in Western Blot and immunoprecipitation [version 2; peer review: 1 approved, 1 approve...

Export this record

Export record to excel

An Inducible Luminescent System to Explore Parkinson’s Disease-Associated Genes

Export this record

Export record to excel

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Export this record

Export record to excel

Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models

Export this record

Export record to excel

Transcriptional Dysregulation and Impaired Neuronal Activity in IFMR1/I Knock-Out and Fragile X Patients’ iPSC-Derived Models

Export this record

Export record to excel

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

Export this record

Export record to excel

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Export this record

Export record to excel

Glucosylceramide induced ectosomes propagate pathogenic α-synuclein in Parkinson's disease

Export this record

Export record to excel

Mutations in SOD1 induce ALS-related phenotypes in 3D iPSC-derived motor neuron (MN) spheroids

Refine your search