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Nature Medicine
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June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine
|
September 22, 2022
Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Adam M Staffaroni, Melanie Quintana, Barbara Wendelberger, et al.
Brain : a Journal of Neurology
|
September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Acta Neuropathologica
|
February 11, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
Cyril Pottier, Yingxue Ren, Ralph B Perkerson, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2024
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing
Cyril Pottier, Fahri Küçükali, Matt Baker, et al.
Nature Communications
|
April 25, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Cyril Pottier, Fahri Küçükali, Matt Baker, et al.
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Search research articles
Search
Showing results (501-510 of 511) with videos related to
Sort By:
Page
of 52
Nature Medicine
|
June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine
|
September 22, 2022
Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Adam M Staffaroni, Melanie Quintana, Barbara Wendelberger, et al.
Brain : a Journal of Neurology
|
September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Acta Neuropathologica
|
February 11, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
Cyril Pottier, Yingxue Ren, Ralph B Perkerson, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2024
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing
Cyril Pottier, Fahri Küçükali, Matt Baker, et al.
Nature Communications
|
April 25, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Cyril Pottier, Fahri Küçükali, Matt Baker, et al.
Page
of 52