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Movement Disorders : Official Journal of the Movement Disorder Society
|
June 23, 2025
Screening of Hidden Pathogenic Structural Variants in PRKN
Kensuke Daida, Guillaume Cogan, Christelle Tesson, et al.
Human Genetics
|
October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Guillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Brain : a Journal of Neurology
|
February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in Europe
Jean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
NPJ Parkinson'S Disease
|
May 24, 2024
Profiling complex repeat expansions in RFC1 in Parkinson's disease
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands
Guillaume Cogan, Marion Houot, Julie Bogoin, et al.
NPJ Parkinson'S Disease
|
November 21, 2025
Author Correction: Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis
Aymeric Lanore, Christelle Tesson, Aymeric Basset, et al.
Prenatal Diagnosis
|
March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Cécile Courdier, John Boudjarane, Valérie Malan, et al.
NPJ Parkinson'S Disease
|
August 2, 2025
Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis
Aymeric Lanore, Christelle Tesson, Aymeric Basset, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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Showing results (11-20 of 20) with videos related to
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This site can display upto 20 results.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 23, 2025
Screening of Hidden Pathogenic Structural Variants in PRKN
Kensuke Daida, Guillaume Cogan, Christelle Tesson, et al.
Human Genetics
|
October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Guillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Brain : a Journal of Neurology
|
February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in Europe
Jean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
NPJ Parkinson'S Disease
|
May 24, 2024
Profiling complex repeat expansions in RFC1 in Parkinson's disease
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, et al.
Brain : a Journal of Neurology
|
November 15, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands
Guillaume Cogan, Marion Houot, Julie Bogoin, et al.
NPJ Parkinson'S Disease
|
November 21, 2025
Author Correction: Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis
Aymeric Lanore, Christelle Tesson, Aymeric Basset, et al.
Prenatal Diagnosis
|
March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Cécile Courdier, John Boudjarane, Valérie Malan, et al.
NPJ Parkinson'S Disease
|
August 2, 2025
Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis
Aymeric Lanore, Christelle Tesson, Aymeric Basset, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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