Giovanni Zifarelli

5PUBLICATIONS
78CO-AUTHORS
Molecular evolutionDevelopmental genetics (incl. sex determination)Genome structure and regulationElectronic and magnetic properties of condensed matter; superconductivityHaematological tumours
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Journal

Publications (5)

|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

|Dec 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf

|Mar 09, 2022
Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders.

Giovanni Zifarelli, Michael Pusch, Peying Fong

|Apr 27, 2021
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.

Uta Rössler, Anna Floriane Hennig, Nina Stelzer

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Frequent Collaborators

3 joint publications

Henry Houlden

2 joint publications

Maha S Zaki

2 joint publications

Mariasavina Severino

2 joint publications

Emmanuel Roze