Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Autor: Alexander Sandberg, Helen Ling, Marla Gearing, Beth Dombroski, Laura Cantwell, Lea R'Bibo, Allan Levey, Gerard D. Schellenberg, John Hardy, Nicholas Wood, Josefin Fernius, Sofie Nyström, Samuel Svensson, Stefan Thor, Per Hammarström, Tamas Revesz, Kin Y. Mok

Publikováno v: Neurobiology of Disease, Vol 146, Iss , Pp 105079- (2020)

Microtubule Associated Protein Tau (MAPT) forms proteopathic aggregates in several diseases. The G273R tau mutation, located in the first repeat region, was found by exome sequencing in a patient who presented with dementia and parkinsonism. We herei

Externí odkaz: https://doaj.org/article/f4fc7835db1b4223bcf2ec2d2ca9fce2

Clinical Approach to Progressive Supranuclear Palsy

Autor: Helen Ling

Publikováno v: Journal of Movement Disorders, Vol 9, Iss 1, Pp 3-13 (2016)

Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phen

Externí odkaz: https://doaj.org/article/4de692f458184eaa8bb119a0344b83ad

Identification of multiple system atrophy mimicking Parkinson’s disease or progressive supranuclear palsy

Autor: Yasuo Miki, Janice L. Holton, Zane Jaunmuktane, Adam Kenji Yamamoto, Helen Ling, Sandrine C. Foti, Conceição Bettencourt, Koichi Wakabayashi, Kate Strand, Marcos C B Oliveira, Eduardo De Pablo-Fernandez, Andrew J. Lees, Niall Quinn, Thomas T. Warner, Yasmine T. Asi, Eiki Tsushima

Publikováno v: Brain. 144:1138-1151

We studied a subset of patients with autopsy-confirmed multiple system atrophy who presented a clinical picture that closely resembled either Parkinson’s disease or progressive supranuclear palsy. These mimics are not captured by the current diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7ef114fab9855bfed0a8bb5053f81c
https://doi.org/10.1093/brain/awab017

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

Autor: Melissa Leisner, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Erin E. Hughes, Robert J. Sicko, Helen Ling, Denise M. Kay

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 73, p 73 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 4

Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ce9fd81c8ddaa3d7945f7a569cf28
https://www.mdpi.com/2409-515X/7/4/73

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Autor: Lea R'Bibo, John C. Hedreen, Matthew Ellis, Gabor G. Kovacs, Kieren Allinson, Sebastian Brandner, Jean Paul Vonsattel, John Hardy, Thomas T. Warner, Eniko Veronika Kovari, Safa Al-Sarraj, David G. Mann, Glenda M. Halliday, Edwin Jabbari, Tamas Revesz, Johannes Attems, Helen Ling, Ellen Gelpi, James W. Ironside, Seth Love, Teisha Bradshaw, Roberto Simone, Rohan de Silva, Karen Davey, Núria Setó-Salvia, Kin Y. Mok, Daniela Hansen, Selina Wray, Janice L. Holton, Zane Jaunmuktane, Huw R. Morris

Publikováno v: Acta Neuropathologica
Acta Neuropathologica, Vol. 139, No 4 (2020) pp. 717-734
Ling, H, Gelpi, E, Davey, K, Jaunmuktane, Z, Mok, K Y, Jabbari, E, Simone, R, R'Bibo, L, Brandner, S, Ellis, M, Attems, J, Mann, D, Halliday, G M, Al-Sarraj, S, Hedreen, J, Ironside, J W, Kovacs, G G, Kovari, E, Love, S, Vonsattel, J P G, Allinson, K S J, Hansen, D, Bradshaw, T, Setó-Salvia, N, Wray, S, de Silva, R, Morris, H R, Warner, T T, Holton, J L & Revesz, T 2020, ' Fulminant corticobasal degeneration : a distinct variant with predominant neuronal tau aggregates ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02119-4

Corticobasal degeneration typically progresses gradually over 5–7 years from onset till death. Fulminant corticobasal degeneration cases with a rapidly progressive course were rarely reported (RP-CBD). This study aimed to investigate their neuropat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c27e8e4743c2dd085f3d550f52436fb
https://www.repository.cam.ac.uk/handle/1810/306417