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Mathias Toft

Showing results (81-90 of 129) with videos related to

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Nature Communications|August 22, 2022
Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathologyLasse Pihlstrøm, Gemma Shireby, Hanneke Geut, et al.
Parkinsonism & Related Disorders|August 17, 2005
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PDDavid Gosal, Owen A Ross, Joe Wiley, et al.
Genes|July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersSaadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2007
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's diseaseMathias Toft, Ignacio F Mata, Owen A Ross, et al.
Trials|February 5, 2022
Paramedic Norwegian Acute Stroke Prehospital Project (ParaNASPP) study protocol: a stepped wedge randomised trial of stroke screening using the National Institutes of Health Stroke Scale in the ambulanceHelge Fagerheim Bugge, Mona Guterud, Kristi C G Bache, et al.
Molecular Genetics and Genomics : MGG|May 21, 2024
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELNTehseen Ullah Khan Afridi, Ambrin Fatima, Humayoon Shafique Satti, et al.
Nature Communications|October 1, 2024
The genetic landscape of basal ganglia and implications for common brain disordersShahram Bahrami, Kaja Nordengen, Jaroslav Rokicki, et al.
Human Genetics|December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalitiesNaseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
American Journal of Human Genetics|February 24, 2005
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populationsJennifer Kachergus, Ignacio F Mata, Mary Hulihan, et al.
Human Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.
Pageof 13

Showing results (81-90 of 129) with videos related to

Sort By:
Pageof 13
Nature Communications|August 22, 2022
Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathologyLasse Pihlstrøm, Gemma Shireby, Hanneke Geut, et al.
Parkinsonism & Related Disorders|August 17, 2005
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PDDavid Gosal, Owen A Ross, Joe Wiley, et al.
Genes|July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar DisordersSaadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2007
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's diseaseMathias Toft, Ignacio F Mata, Owen A Ross, et al.
Trials|February 5, 2022
Paramedic Norwegian Acute Stroke Prehospital Project (ParaNASPP) study protocol: a stepped wedge randomised trial of stroke screening using the National Institutes of Health Stroke Scale in the ambulanceHelge Fagerheim Bugge, Mona Guterud, Kristi C G Bache, et al.
Molecular Genetics and Genomics : MGG|May 21, 2024
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELNTehseen Ullah Khan Afridi, Ambrin Fatima, Humayoon Shafique Satti, et al.
Nature Communications|October 1, 2024
The genetic landscape of basal ganglia and implications for common brain disordersShahram Bahrami, Kaja Nordengen, Jaroslav Rokicki, et al.
Human Genetics|December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalitiesNaseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
American Journal of Human Genetics|February 24, 2005
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populationsJennifer Kachergus, Ignacio F Mata, Mary Hulihan, et al.
Human Genomics|February 12, 2026
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical managementHammad Yousaf, Sajid Ali, Ahad Yousuf Moulvi, et al.
Pageof 13