Research output per year
Research output per year
Personal profile
Academic discipline
MEDICAL GENETICS
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country level (based on research outputs with Scopus ID). Dive into details by clicking on the dots.
Research output
- 85 Article
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Analysis of STMN2 CA repeats in italian ALS patients shows no association
Doronzio, P. N., Lattante, S., Marangi, G., Martello, F., Conte, A., Bisogni, G., Bernardo, D., Patanella, A. K., Meleo, E., Zollino, M. & Sabatelli, M., 2023, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24, p. 152-154 3 p.Research output: Contribution to journal › Article
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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Parenti, G. P., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., & 16 others, 2023, In: European Journal of Human Genetics. p. N/A-N/AResearch output: Contribution to journal › Article
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Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis
Lattante, S., Sabatelli, M., Bisogni, G., Marangi, G., Doronzio, P. N., Martello, F., Renzi, A. G., Del Giudice, E., Leon, A., Cimbolli, P., Marchione, D., Costantino, U., Lucioli, G., Bernardo, D., Meleo, E., Patanella, A. K., Romano, A., Zollino, M. & Conte, A., 2023, In: European Journal of Neurology. p. N/A-N/AResearch output: Contribution to journal › Article › peer-review
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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
Pasquetti, D., Marangi, G., Orteschi, D., Carapelle, M., L'Erario, F. F., Venditti, R., Maietta, S., Battaglia, D. I., Contaldo, I., Veredice, C. & Zollino, M., 2023, In: Genes. 14, p. 245-N/AResearch output: Contribution to journal › Article
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Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
Martello, F., Lattante, S., Doronzio, P. N., Conte, A., Bisogni, G., Orteschi, D., Luigetti, M., Marrucci, M. A., Zollino, M., Sabatelli, M. & Marangi, G., 2022, In: Stem Cell Research. 62, p. 102825-N/AResearch output: Contribution to journal › Article