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Isabelle Le

Showing results (381-390 of 473) with videos related to

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Journal of Neurology|November 28, 2022
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI studyAgnès Pérez-Millan, Sergi Borrego-Écija, John C van Swieten, et al.
JAMA Network Open|September 24, 2021
Effect of the Histone Deacetylase Inhibitor FRM-0334 on Progranulin Levels in Patients With Progranulin Gene Haploinsufficiency: A Randomized Clinical TrialPeter A Ljubenkov, Lauren Edwards, Leonardo Iaccarino, et al.
Annals of Clinical and Translational Neurology|August 11, 2022
The CBI-R detects early behavioural impairment in genetic frontotemporal dementiaAnnabel Nelson, Lucy L Russell, Georgia Peakman, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Neurology. Genetics|July 24, 2025
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI StudyLucy Louise Russell, Arabella Bouzigues, Rhian S Convery, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Journal of Alzheimer'S Disease : JAD|December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testingIsabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.
Neurology|November 11, 2024
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal DementiaP Tristin Best, John C Van Swieten, Lize Corrine Jiskoot, et al.
Alzheimer'S & Dementia (Amsterdam, Netherlands)|April 16, 2024
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementiaKiran Samra, Georgia Peakman, Amy M MacDougall, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Pageof 48

Showing results (381-390 of 473) with videos related to

Sort By:
Pageof 48
Journal of Neurology|November 28, 2022
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI studyAgnès Pérez-Millan, Sergi Borrego-Écija, John C van Swieten, et al.
JAMA Network Open|September 24, 2021
Effect of the Histone Deacetylase Inhibitor FRM-0334 on Progranulin Levels in Patients With Progranulin Gene Haploinsufficiency: A Randomized Clinical TrialPeter A Ljubenkov, Lauren Edwards, Leonardo Iaccarino, et al.
Annals of Clinical and Translational Neurology|August 11, 2022
The CBI-R detects early behavioural impairment in genetic frontotemporal dementiaAnnabel Nelson, Lucy L Russell, Georgia Peakman, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Neurology. Genetics|July 24, 2025
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI StudyLucy Louise Russell, Arabella Bouzigues, Rhian S Convery, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Journal of Alzheimer'S Disease : JAD|December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testingIsabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.
Neurology|November 11, 2024
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal DementiaP Tristin Best, John C Van Swieten, Lize Corrine Jiskoot, et al.
Alzheimer'S & Dementia (Amsterdam, Netherlands)|April 16, 2024
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementiaKiran Samra, Georgia Peakman, Amy M MacDougall, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Pageof 48