Benatar, Michael |  Wuu, Joanne... -  《Nature reviews. Neurology》 - 2024,20(6) - 364～376 - 共13页

摘要：Increasing appreciation of the phenotypic and biological overlap between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, alongside evolving biomarker evidence for a pre-symptomatic st...

关键词： NEUROFILAMENT LIGHT-CHAIN |  AMYOTROPHIC-LATERAL-SCLEROSIS |  PROGRESSIVE SUPRANUCLEAR PALSY |  FRONTOTEMPORAL DEMENTIA |  BEHAVIORAL VARIANT |  EXECUTIVE DYSFUNCTION |  DISEASE PROGRESSION |  MOVEMENT-DISORDERS |  DIAGNOSIS |  CRITERIA

Giannini, Lucia A. A... |  Ohm, Daniel T.... -  《Acta Neuropathologica》 - 2022,144(6) - 1065～1084 - 共20页

摘要：Frontotemporal lobar degeneration with MAPT pathogenic variants (FTLD-MAPT) has heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or four-repeat (4R) tau isoforms, ...

关键词： Frontotemporal lobar degeneration |  Genetic tauopathies |  Tau pathology |  Neuronal degeneration |  CRYO-EM STRUCTURES |  NEURODEGENERATIVE DISEASE |  PROTEIN-TAU |  TISSUE PATHOLOGY |  P301L MUTATION |  PICKS-DISEASE...

Cousins, Katheryn A.... |  Shaw, Leslie M.... -  《Annals of neurology》 - 2022,92(5) - 807～818 - 共12页

摘要：Objective: Plasma phosphorylated tau (p-tau(181)) is reliably elevated in Alzheimer's disease (AD), but less explored is its specificity relative to other neurodegenerative conditions. Here, we find n...

关键词： NEUROFILAMENT LIGHT-CHAIN |  FRONTOTEMPORAL LOBAR DEGENERATION |  ALZHEIMERS-DISEASE |  NATIONAL INSTITUTE |  ALS |  BIOMARKERS |  GUIDELINES |  DIAGNOSIS |  DEMENTIA

Dratch, Laynie |  Kinnamon, Daniel D.... -  《Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration》 - 2024,25(7/8) - 797～799 - 共3页

Giannini, Lucia A. A... |  Ohm, Daniel... -  《Acta Neuropathologica》 - 2023,145(5) - 711～711 - 共1页

Dratch, Laynie |  Bardakjian, Tanya M.... -  《Biology》 - 2024,13(2) - 共12页

摘要：Simple Summary There are many potential benefits of obtaining a genetic diagnosis for an adult diagnosed with a neuromuscular disorder. However, not all patients with neuromuscular disorders will be o...

关键词： neurogenetics |  genetic testing |  genetic counseling |  neuromuscular |  TRIFUNCTIONAL PROTEIN-DEFICIENCY |  MECP2 |  MUTATIONS |  FAMILY |  IDENTIFICATION |  PHENOTYPE...

Muraresku, Colleen C... |  Mccormick, Elizabeth...... -  《genes》 - 2024,15(7) - 共11页

摘要：Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literat...

关键词： genetic counselors |  research |  publications