Josefina Maturo-Perez
B C1221ADC, Argentina
Last Updated: 09/26/2026
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Found 9 publications
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
Journal: Biomedicines
Published: October 11, 2024
Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells.
Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Published: December 29, 2021
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 31, 2020
Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again.
Journal: Movement disorders clinical practice
Published: May 22, 2020
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Journal: Journal of human genetics
Published: April 15, 2020
A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.
Journal: Movement disorders clinical practice
Published: November 25, 2019
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Journal: American journal of medical genetics. Part A
Published: November 17, 2018
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Journal: European journal of medical genetics
Published: July 25, 2018
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Last Updated: 09/26/2026