Search research articles
Contact Us
Filters
Showing results (481-490 of 585) with videos related to
Page
of 59
Sort By:
Cell Reports
|
July 21, 2025
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease
Claire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Clinical Genetics
|
October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum
Luba M Pardo, Javier Martini, Emir Zonic, et al.
Brain : a Journal of Neurology
|
December 8, 2022
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease
Joanne Trinh, Andrew A Hicks, Inke R König, et al.
BMC Cancer
|
August 10, 2019
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, et al.
Current Medical Research and Opinion
|
March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.
The Lancet. Neurology
|
May 28, 2013
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, et al.
Annals of Neurology
|
April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.
Brain : a Journal of Neurology
|
April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
Matthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Neurology
|
August 11, 2017
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Ilaria Giordano, Florian Harmuth, Heike Jacobi, et al.
NPJ Parkinson'S Disease
|
March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Page
of 59
Search research articles
Search
Showing results (481-490 of 585) with videos related to
Sort By:
Page
of 59
Cell Reports
|
July 21, 2025
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease
Claire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.
Clinical Genetics
|
October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum
Luba M Pardo, Javier Martini, Emir Zonic, et al.
Brain : a Journal of Neurology
|
December 8, 2022
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease
Joanne Trinh, Andrew A Hicks, Inke R König, et al.
BMC Cancer
|
August 10, 2019
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Ilnaz Sepahi, Ulrike Faust, Marc Sturm, et al.
Current Medical Research and Opinion
|
March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.
The Lancet. Neurology
|
May 28, 2013
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, et al.
Annals of Neurology
|
April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.
Brain : a Journal of Neurology
|
April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
Matthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Neurology
|
August 11, 2017
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Ilaria Giordano, Florian Harmuth, Heike Jacobi, et al.
NPJ Parkinson'S Disease
|
March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Page
of 59