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Matthis Synofzik

Showing results (251-260 of 511) with videos related to

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Journal of Neurology|April 2, 2022
The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patientsAndreas Thieme, Jennifer Faber, Patricia Sulzer, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Cerebellum (London, England)|June 22, 2022
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging SpectraMahmoud Reza Ashrafi, Pouria Mohammadi, Ali Reza Tavasoli, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 28, 2020
Intraindividual Neurofilament Dynamics in Serum Mark the Conversion to Sporadic Parkinson's DiseaseCarlo Wilke, Marcia Cristina Teixeira Dos Santos, Claudia Schulte, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum DiseaseIsabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
Nature Communications|June 14, 2019
Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin systemLaura Rinaldi, Rossella Delle Donne, Bruno Catalanotti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX StudyAlessandra Scaravilli, Davide Negroni, Claudio Senatore, et al.
Alzheimer'S Research & Therapy|October 27, 2024
Dissecting neural correlates of theory of mind and executive functions in behavioral variant frontotemporal dementiaChristopher M Weise, Annerose Engel, Maryna Polyakova, et al.
Nature Communications|May 29, 2024
Author Correction: Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin systemLaura Rinaldi, Rossella Delle Donne, Bruno Catalanotti, et al.
Pageof 52

Showing results (251-260 of 511) with videos related to

Sort By:
Pageof 52
Journal of Neurology|April 2, 2022
The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patientsAndreas Thieme, Jennifer Faber, Patricia Sulzer, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Cerebellum (London, England)|June 22, 2022
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging SpectraMahmoud Reza Ashrafi, Pouria Mohammadi, Ali Reza Tavasoli, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 28, 2020
Intraindividual Neurofilament Dynamics in Serum Mark the Conversion to Sporadic Parkinson's DiseaseCarlo Wilke, Marcia Cristina Teixeira Dos Santos, Claudia Schulte, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum DiseaseIsabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
Nature Communications|June 14, 2019
Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin systemLaura Rinaldi, Rossella Delle Donne, Bruno Catalanotti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 7, 2024
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX StudyAlessandra Scaravilli, Davide Negroni, Claudio Senatore, et al.
Alzheimer'S Research & Therapy|October 27, 2024
Dissecting neural correlates of theory of mind and executive functions in behavioral variant frontotemporal dementiaChristopher M Weise, Annerose Engel, Maryna Polyakova, et al.
Nature Communications|May 29, 2024
Author Correction: Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin systemLaura Rinaldi, Rossella Delle Donne, Bruno Catalanotti, et al.
Pageof 52