What's New

Last Posted: Aug 01, 2023

• PROSA-a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD.
  Johannes Tröger et al. Amyotroph Lateral Scler Frontotemporal Degener 2023 1-10
• Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
  Martin Paucar et al. J Neurol Sci 2023 451120707
• Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
  Maximilian Wiesenfarth et al. Brain communications 2023 5(2) fcad087
• Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
  Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4
• Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.
  Sung Wonjae et al. Brain communications 2022 4(6) fcac299
• Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
  Finger Elizabeth et al. Brain : a journal of neurology 2022
• Automated differential diagnosis of dementia syndromes using FDG PET and machine learning.
  Perovnik Matej et al. Frontiers in aging neuroscience 2022 141005731
• Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
  Pierron Lucie et al. Journal of medical genetics 2022
• Multi-feature computational framework for combined signatures of dementia in underrepresented settings.
  Moguilner Sebastian et al. Journal of neural engineering 2022
• Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning: Dementia Praecox Revisited.
  Koutsouleris Nikolaos et al. JAMA psychiatry 2022 8
• A Reproducible Deep-Learning-Based Computer-Aided Diagnosis Tool for Frontotemporal Dementia Using MONAI and Clinica Frameworks.
  Termine Andrea et al. Life (Basel, Switzerland) 2022 12(7)
• Gene Therapy in Amyotrophic Lateral Sclerosis.
  Fang Ton et al. Cells 2022 11(13)
• Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
  Kirola Laxmi et al. Molecular neurobiology 2022
• Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.
  Crook Ashley et al. Journal of genetic counseling 2022
• ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.
  Laaksovirta Hannu et al. Neurology. Genetics 2022 8(2) e665
• Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.
  Galluzzi Samantha et al. Alzheimer disease and associated disorders 2022
• Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.
  Pagnon de la Vega María et al. BMC genomics 2022 23(1) 99
• Cognitive composites for genetic frontotemporal dementia: GENFI-Cog.
  Poos Jackie M et al. Alzheimer's research & therapy 2022 14(1) 10
• Comparing two artificial intelligence software packages for normative brain volumetry in memory clinic imaging.
  Zaki Lara A M et al. Neuroradiology 2022
• Developing a consensus protocol for genetic testing in frontotemporal dementia.
  Greaves Caroline V et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 17 Suppl 8e052260
• Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first
  A Crook et al, EJHG, January 5, 2022
• Contribution of rare variant associations to neurodegenerative disease presentation.
  Dilliott Allison A et al. NPJ genomic medicine 2021 6(1) 80
• Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research.
  Llibre-Guerra Jorge J et al. Frontiers in neurology 2021 12710332
• Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population.
  López-Cáceres Andrea et al. Frontiers in neurology 2021 12681595
• The role of genetics in neurodegenerative dementia: a large cohort study in South China.
  Jiao Bin et al. NPJ genomic medicine 2021 6(1) 69
• Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.
  Crook Ashley et al. Alzheimer disease and associated disorders 2021
• Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
  Cairns Lauren M et al. Journal of medical genetics 2021
• Genetic testing in dementia-A medical genetics perspective.
  Huq Aamira J et al. International journal of geriatric psychiatry 2021
• Genetics of frontotemporal dementia in China.
  Jiang Yaling et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2021 Feb 1-15
• Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
  Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
• Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
  Mega Anna et al. Alzheimer's research & therapy 2020 Nov 12(1) 152
• Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management.
  Roggenbuck Jennifer et al. Clinics in laboratory medicine 2020 Sep 40(3) 271-287
• Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
  Sokratous Maria et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2020 Apr 1-3
• Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
  Ramos Eliana Marisa et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16(1) 118-130
• Evaluating the reliability of neurocognitive biomarkers of neurodegenerative diseases across countries: A machine learning approach.
  Bachli M Belen et al. NeuroImage 2019 Dec 116456
• CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges.
  Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Nov 20(sup1) 327-347
• Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.
  Goldman Jill S et al. Cold Spring Harbor perspectives in medicine 2019 Sep
• Robust automated computational approach for classifying frontotemporal neurodegeneration: Multimodal/multicenter neuroimaging.
  Donnelly-Kehoe Patricio Andres et al. Alzheimer's & dementia (Amsterdam, Netherlands) 2019 Dec 11588-598
• The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications.
  Gossye Helena et al. Frontiers in neuroscience 2019 13757
• Update on amyotrophic lateral sclerosis genetics.
  Brenner David et al. Current opinion in neurology 2019 Jul

More