Giovanni Zifarelli

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Pluripotent Stem Cells

Intellectual Disability

Botulinum Toxin

Top Venues

Brain : a journal of neurology

Movement disorders : official journal of the Movement Disorder Society

The Journal of physiology

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Giovanni Zifarelli, Michael Pusch, Markus Hoth
Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders. The Journal of physiology 600 (9) (2022)
Uta Rössler, Anna Floriane Hennig, Nina Stelzer, Shroddha Bose, Johannes Kopp, Kent Søe, Lukas Cyganek, Giovanni Zifarelli, Salaheddine Ali, Maja von der Hagen, Elisabeth Tamara Strässler, Gabriele Hahn, Michael Pusch, Tobias Stauber, Zsuzsanna Izsvák, Manfred Gossen, Harald Stachelscheid, Uwe Kornak
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (8) (2021)