Stefano Goldwurm

Turin, Italy

Last Updated: 09/26/2026

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Found 59 publications

Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.

Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.

Journal: Stem cell research

Published: June 30, 2023

Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations.

Levodopa-carbidopa intestinal gel infusion (LCIG) in Parkinson disease with genetic mutations.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: March 16, 2023

TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms.

TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms.

Journal: Frontiers in aging neuroscience

Published: August 16, 2022

VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.

VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.

Journal: Parkinsonism & related disorders

Published: September 28, 2021

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

Journal: Annals of neurology

Published: April 07, 2020

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 07, 2020

Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.

Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 17, 2020

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.

Journal: Acta neuropathologica communications

Published: October 26, 2019

Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene.

Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene.

Journal: Stem cell research

Published: October 16, 2019

TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration.

TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration.

Journal: Cell reports

Published: February 08, 2019

A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner.

A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner.

Journal: Human mutation

Published: December 04, 2018

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Journal: Stem cell research

Published: November 28, 2018

Showing 1-12 of 59

Last Updated: 09/26/2026