Author details

Full Name

Leonard Petrucelli

Affiliation

ORCID

Career Start Year

1992

Papers

283

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36930682	TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A.	PLoS Biol	2023
36374516	Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers.	JAMA Neurol	2023
36100130	Race affects adverse outcomes of deep vein thrombosis, pulmonary embolism, and acute kidney injury in coronavirus disease 2019 hospitalized patients.	J Vasc Surg Venous Lymphat Disord	2023
36149513	Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.	Neurological Sciences	2023
37605276	TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains.	Mol Neurodegener	2023
37752346	Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo.		2023
37939160	Immunological drivers of amyotrophic lateral sclerosis.		2023
37827960	The endolysosomal pathway and ALS/FTD.		2023
38012192	Author Correction: Microglial REV-ERBÎ± regulates inflammation and lipid droplet formation to drive tauopathy in male mice.		2023
38093787	Molecular fragment characteristics and distribution of tangle associated TDP-43 (TATs) and other TDP-43 lesions in Alzheimer's disease.	Free Neuropathol	2023
37893236	Investigating the Pathogenic Interplay of Alpha-Synuclein, Tau, and Amyloid Beta in Lewy Body Dementia: Insights from Viral-Mediated Overexpression in Transgenic Mouse Models.		2023
38086178	Clinicopathologic features of a novel star-shaped transactive response DNA-binding protein 43 (TDP-43) pathology in the oldest old.	J Neuropathol Exp Neurol	2023
37626048	Microglial REV-ERBÎ± regulates inflammation and lipid droplet formation to drive tauopathy in male mice.		2023
37614226	CRISPR interference to evaluate modifiers of <i>C9ORF72</i>-mediated toxicity in FTD.	Front Cell Dev Biol	2023
37471224	Poly(GR) interacts with key stress granule factors promoting its assembly into cytoplasmic inclusions.	Cell Rep	2023
37283503	First families with spinocerebellar ataxia type 7 in Poland.		2023
37336025	Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.	Parkinsonism Relat Disord	2023
37461319	FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in <i>C9orf72</i>-linked ALS/FTD.	Elife	2023
37333274	Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.	bioRxiv	2023
36638803	Dorsomedial prefrontal hypoexcitability underlies lost empathy in frontotemporal dementia.		2023
37010807	Inflammasome-Mediated Neuronal-Microglial Crosstalk: a Therapeutic Substrate for the Familial C9orf72 Variant of Frontotemporal Dementia/Amyotrophic Lateral Sclerosis.		2023
36810653	Author Correction: Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD.	Nat Neurosci	2023
37451236	Correction: TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A.	PLoS Biol	2023
36747793	Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.	bioRxiv	2023
37184659	Prognostic performance of blood neurofilament light chain protein in hospitalized COVID-19 patients without major central nervous system manifestations: an individual participant data meta-analysis.	J Neurol	2023
35197579	Amyotrophic lateral sclerosis - insight into susceptibility.	Nature Reviews Neurology	2022
35589711	Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD.	Nat Commun	2022
36103513	Poly(ADP-ribose) promotes toxicity of <i>C9ORF72</i> arginine-rich dipeptide repeat proteins.	Sci Transl Med	2022
35587620	Comment on: Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.	Movement Disorders	2022
35386195	Plasma PolyQ-ATXN3 Levels Associate With Cerebellar Degeneration and Behavioral Abnormalities in a New AAV-Based SCA3 Mouse Model.	Front Cell Dev Biol	2022
35567447	Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers.	Clin Transl Med	2022
36213006	Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19.	iScience	2022
35879741	Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.	Acta Neuropathol Commun	2022
36271076	CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.	Nat Commun	2022
36201573	Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.	Science	2022
35478426	Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.	European Journal of Neurology	2022
36409902	A blood-brain penetrant RNA-targeted small molecule triggers elimination of r(G<sub>4</sub>C<sub>2</sub>)<sup>exp</sup> in c9ALS/FTD via the nuclear RNA exosome.	Proc Natl Acad Sci U S A	2022
35715944	Old age amyotrophic lateral sclerosis and limbic TDP-43 pathology.	Brain Pathol	2022
36482422	Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy.	Mol Neurodegener	2022
36454749	Comprehensive evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of <i>C9orf72</i> disease.	Proc Natl Acad Sci U S A	2022
34918030	Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.	Brain	2022
35260846	Modelling amyotrophic lateral sclerosis in rodents.	Nature Reviews Neuroscience	2022
35247328	Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases.	Cell	2022
35168140	TDP-43-associated atrophy in brains with and without frontotemporal lobar degeneration.	Neuroimage Clin	2022
35096836	HDAC6 Interacts With Poly (GA) and Modulates its Accumulation in c9FTD/ALS.	Front Cell Dev Biol	2022
35197626	TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.	Nature	2022
34425874	Cellular and pathological heterogeneity of primary tauopathies.	Mol Neurodegener	2021
33914880	Application of a bioinformatic pipeline to RNA-seq data identifies novel virus-like sequence in human blood.	G3 (Bethesda)	2021
33482083	p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).	Cell	2021
34232472	NIH funding trends for neurosurgeon-scientists from 1993-2017: Biomedical workforce implications for neurooncology.	J Neurooncol	2021