“Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model”- ARSACS research by Dr. Maltecca and her team published in the JCI insights in May, 2023.

"In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay" - research article by Dr. Nicolas Dupré published in Stem Cells International on April 15, 2023.

"AlphaFold predicted structure of the Hsp90-like domains of theneurodegeneration linked proteinsacsin reveals key residues for
ATPase activity"-research article by Dr. Paul Chapple published in Frontiers, January 13, 2023.

“Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization”, research article by Drs. Justin Wolter and Paul Chapple published in Cell Reports  on November 1, 2022.

“Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)”, research article by Dr. Mohan Babu  and his team published by Elsevier in september, 2022.

“Recessive cerebellar and afferent Ataxias - clinical challenges and future directions”, research article by Dr. Nicolas Dupré and his team published in the Nature Reviews | Neurology journal on March 24, 2022.

  "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments" , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.

 Drs. Suran Nethisingle and Paola Giunti's research entitled "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS" published in the International Journal of Molecular Medicine in October 2021

“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article  by Drs Watt and Mckinney published in the Frontiers Journal. 

“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.

"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”  Dr. Maltecca and her team's  research paper published in Neurology.  

"The ataxia protein sacsin is required for integrin traficcking and synaptic organisation" article submitted for publication by ARSACS researchers. 

"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

 "From fuzziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"  Dr Mohan Babu's article published in IScience.

 "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

 "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

"A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

"An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

 A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications on ARSACS from 1979 to January 19,2019

“Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model”- ARSACS research by Dr. Maltecca and her team published in the JCI insights in May, 2023.

"In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay" - research article by Dr. Nicolas Dupré published in Stem Cells International on April 15, 2023.

"AlphaFold predicted structure of the Hsp90-like domains of theneurodegeneration linked proteinsacsin reveals key residues for
ATPase activity"-research article by Dr. Paul Chapple published in Frontiers, January 13, 2023.

“Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization”, research article by Drs. Justin Wolter and Paul Chapple published in Cell Reports  on November 1, 2022.

“Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)”, research article by Dr. Mohan Babu  and his team published by Elsevier in september, 2022.

“Recessive cerebellar and afferent Ataxias - clinical challenges and future directions”, research article by Dr. Nicolas Dupré and his team published in the Nature Reviews | Neurology journal on March 24, 2022.

  "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments" , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.

 Drs. Suran Nethisingle and Paola Giunti's research entitled "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS" published in the International Journal of Molecular Medicine in October 2021

“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article  by Drs Watt and Mckinney published in the Frontiers Journal. 

“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.

"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”  Dr. Maltecca and her team's  research paper published in Neurology.  

"The ataxia protein sacsin is required for integrin traficcking and synaptic organisation" article submitted for publication by ARSACS researchers. 

"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

 "From fuzziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"  Dr Mohan Babu's article published in IScience.

 "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

 "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

"A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

"An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

 A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications on ARSACS from 1979 to January 19,2019

  "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments" , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.

 Drs. Suran Nethisingle and Paola Giunti's research entitled "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS" published in the International Journal of Molecular Medicine in October 2021

“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article  by Drs Watt and Mckinney published in the Frontiers Journal. 

“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.

"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”  Dr. Maltecca and her team's  research paper published in Neurology.  

"The ataxia protein sacsin is required for integrin traficcking and synaptic organisation" article submitted for publication by ARSACS researchers. 

"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

 "From fuzziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"  Dr Mohan Babu's article published in IScience.

 "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

 "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

"A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

"An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

 A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications on ARSACS from 1979 to January 19,2019

  "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments" , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.

 Drs. Suran Nethisingle and Paola Giunti's research entitled "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS" published in the International Journal of Molecular Medicine in October 2021

“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article  by Drs Watt and Mckinney published in the Frontiers Journal. 

“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.

"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”  Dr. Maltecca and her team's  research paper published in Neurology.  

"The ataxia protein sacsin is required for integrin traficcking and synaptic organisation" article submitted for publication by ARSACS researchers. 

"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

 "From fuzziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"  Dr Mohan Babu's article published in IScience.

 "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

 "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

"A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

"An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

 A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications on ARSACS from 1979 to January 19,2019

  "Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments" , research done by Dr. Federico Herrera and his team in Portugal, published in the Cells Journal on January 16, 2022.

 Drs. Suran Nethisingle and Paola Giunti's research entitled "Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS" published in the International Journal of Molecular Medicine in October 2021

“Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” article  by Drs Watt and Mckinney published in the Frontiers Journal. 

“Functional mobility in walking adult population with ataxia Charlevoix-Saguenay” Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. First study to focus on adult walkers with ARSACS.

"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”  Dr. Maltecca and her team's  research paper published in Neurology.  

"The ataxia protein sacsin is required for integrin traficcking and synaptic organisation" article submitted for publication by ARSACS researchers. 

"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

 "From fuzziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"  Dr Mohan Babu's article published in IScience.

 "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

 "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

"A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

“Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

"An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

"Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

 A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications on ARSACS from 1979 to January 19,2019