Search Results - "Pfaff AL"

Comparison of Proteomic Analysis of Cerebrospinal Fluid From Neurological Patients With and Without Amyotrophic Lateral Sclerosis.

Authors: Sabetta E Rallmann K Taba P et al.

Source: Journal of neurochemistry [J Neurochem] 2026 Jun; Vol. 170 (6), pp. e70508.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print Cited Medium: Internet ISSN: 1471-4159 (Electronic) Linking ISSN: 00223042 NLM ISO Abbreviation: J Neurochem Subsets: MEDLINE

Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing.

Authors: Sabetta E Rallmann K Bergquist J et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2025 Jul 17; Vol. 250, pp. 10593. Date of Electronic Publication: 2025 Jul 17 (Print Publication: 2025).

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: eCollection Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Retrotransposition-competent L1s are increased in the genomes of individuals with amyotrophic lateral sclerosis.

Authors: Pfaff AL Kõks S

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2025 Jun 03; Vol. 250, pp. 10575. Date of Electronic Publication: 2025 Jun 03 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: eCollection Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis.

Authors: Pfaff AL Bubb VJ Quinn JP et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2025 May 29; Vol. 250, pp. 10600. Date of Electronic Publication: 2025 May 29 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: eCollection Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Whole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures.

Authors: Kõks S Rallmann K Muldmaa M et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2025 Jan 08; Vol. 249, pp. 10401. Date of Electronic Publication: 2025 Jan 08 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: eCollection Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

SVA Regulation of Transposable Element Clustered Transcription within the Major Histocompatibility Complex Genomic Class II Region of the Parkinson's Progression Markers Initiative.

Authors: Kulski JK Pfaff AL Koks S

Source: Genes [Genes (Basel)] 2024 Sep 09; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Regulatory SVA retrotransposons and classical HLA genotyped-transcripts associated with Parkinson's disease.

Authors: Kulski JK Suzuki S Shiina T et al.

Source: Frontiers in immunology [Front Immunol] 2024 Mar 25; Vol. 15, pp. 1349030. Date of Electronic Publication: 2024 Mar 25 (Print Publication: 2024).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex.

Authors: Kulski JK Pfaff AL Marney LD et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2023 Dec; Vol. 248 (23), pp. 2304-2318. Date of Electronic Publication: 2023 Nov 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals.

Authors: Fröhlich A Pfaff AL Bubb VJ et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2023 Dec; Vol. 248 (23), pp. 2325-2331. Date of Electronic Publication: 2023 Nov 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Longitudinal dysregulation of long non-coding RNAs in Parkinson's disease.

Authors: Müller-Nedebock AC Cuttler K Pfaff AL et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2023 Oct; Vol. 248 (20), pp. 1780-1784. Date of Electronic Publication: 2023 Sep 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus.

Authors: Fröhlich A Hughes LS Middlehurst B et al.

Source: Frontiers in neurology [Front Neurol] 2023 Sep 29; Vol. 14, pp. 1273036. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression.

Authors: Marshall JNG Fröhlich A Li L et al.

Source: Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Sep 05; Vol. 15, pp. 954928. Date of Electronic Publication: 2022 Sep 05 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease.

Authors: Kõks S Pfaff AL Singleton LM et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2022 Sep; Vol. 247 (18), pp. 1680-1690. Date of Electronic Publication: 2022 Aug 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription.

Authors: Koks S Pfaff AL Bubb VJ et al.

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2022 Jun; Vol. 247 (11), pp. 945-957. Date of Electronic Publication: 2022 Mar 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Mechanisms of disease-associated SINE-VNTR-Alus.

Authors: Pfaff AL Singleton LM Kõks S

Source: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2022 May; Vol. 247 (9), pp. 756-764. Date of Electronic Publication: 2022 Apr 06.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 100973463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3699 (Electronic) Linking ISSN: 15353699 NLM ISO Abbreviation: Exp Biol Med (Maywood) Subsets: MEDLINE

Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis.

Authors: Pfaff AL Bubb VJ Quinn JP et al.

Source: Molecular brain [Mol Brain] 2022 Mar 28; Vol. 15 (1), pp. 25. Date of Electronic Publication: 2022 Mar 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus.

Authors: Fröhlich A Pfaff AL Bubb VJ et al.

Source: Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Mar 09; Vol. 15, pp. 815695. Date of Electronic Publication: 2022 Mar 09 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

TOMM40 '523' poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson's disease.

Authors: Bakeberg MC Gorecki AM Pfaff AL et al.

Source: NPJ Parkinson's disease [NPJ Parkinsons Dis] 2021 Jul 07; Vol. 7 (1), pp. 56. Date of Electronic Publication: 2021 Jul 07.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.

Authors: Fröhlich A Pfaff AL Middlehurst B et al.

Source: Scientific reports [Sci Rep] 2024 May 13; Vol. 14 (1), pp. 10932. Date of Electronic Publication: 2024 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System.

Authors: Hughes LS Fröhlich A Pfaff AL et al.

Source: Biomolecules [Biomolecules] 2024 Mar 17; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE