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Treatment of Functional Hypogonadism Besides Pharmacological Substitution.

The world journal of men's health

Corona G, Rastrelli G, Morelli A, Sarchielli E, Cipriani S, Vignozzi L, Maggi M.
PMID: 31496147
World J Mens Health. 2020 Jul;38(3):256-270. doi: 10.5534/wjmh.190061. Epub 2019 Aug 29.

A dichotomic distinction between "organic" and "functional" hypogonadism is emerging. The former is an irreversible condition due to congenital or "acquired" "organic" damage of the brain centers or of the testis. Conversely, the latter is a potentially reversible form,...

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Corona G, Rastrelli G, Morelli A, et al. Treatment of Functional Hypogonadism Besides Pharmacological Substitution. World J Mens Health. 2019;38(3):256-270doi: 10.5534/wjmh.190061.
Corona, G., Rastrelli, G., Morelli, A., Sarchielli, E., Cipriani, S., Vignozzi, L., & Maggi, M. (2020). Treatment of Functional Hypogonadism Besides Pharmacological Substitution. The world journal of men's health, 38(3), 256-270. https://doi.org/10.5534/wjmh.190061
Corona, Giovanni, et al. "Treatment of Functional Hypogonadism Besides Pharmacological Substitution." The world journal of men's health vol. 38,3 (2020): 256-270. doi: https://doi.org/10.5534/wjmh.190061
Corona G, Rastrelli G, Morelli A, Sarchielli E, Cipriani S, Vignozzi L, Maggi M. Treatment of Functional Hypogonadism Besides Pharmacological Substitution. World J Mens Health. 2020 Jul;38(3):256-270. doi: 10.5534/wjmh.190061. Epub 2019 Aug 29. PMID: 31496147; PMCID: PMC7308235.
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Practical approach to diastolic dysfunction in light of the new guidelines and clinical applications in the operating room and in the intensive care.

Annals of intensive care

Sanfilippo F, Scolletta S, Morelli A, Vieillard-Baron A.
PMID: 30374644
Ann Intensive Care. 2018 Oct 29;8(1):100. doi: 10.1186/s13613-018-0447-x.

There is growing evidence both in the perioperative period and in the field of intensive care (ICU) on the association between left ventricular diastolic dysfunction (LVDD) and worse outcomes in patients. The recent American Society of Echocardiography and European...

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Sanfilippo F, Scolletta S, Morelli A, et al. Practical approach to diastolic dysfunction in light of the new guidelines and clinical applications in the operating room and in the intensive care. Ann Intensive Care. 2018;8(1):100doi: 10.1186/s13613-018-0447-x.
Sanfilippo, F., Scolletta, S., Morelli, A., & Vieillard-Baron, A. (2018). Practical approach to diastolic dysfunction in light of the new guidelines and clinical applications in the operating room and in the intensive care. Annals of intensive care, 8(1), 100. https://doi.org/10.1186/s13613-018-0447-x
Sanfilippo, F, et al. "Practical approach to diastolic dysfunction in light of the new guidelines and clinical applications in the operating room and in the intensive care." Annals of intensive care vol. 8,1 (2018): 100. doi: https://doi.org/10.1186/s13613-018-0447-x
Sanfilippo F, Scolletta S, Morelli A, Vieillard-Baron A. Practical approach to diastolic dysfunction in light of the new guidelines and clinical applications in the operating room and in the intensive care. Ann Intensive Care. 2018 Oct 29;8(1):100. doi: 10.1186/s13613-018-0447-x. PMID: 30374644; PMCID: PMC6206316.
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Effect of initial periodontal therapy on gingival crevicular fluid cytokine profile in subjects with chronic periodontitis.

Clinical and experimental dental research

Zekeridou A, Giannopoulou C, Cancela J, Courvoisier D, Mombelli A.
PMID: 29744180
Clin Exp Dent Res. 2017 Apr 12;3(2):62-68. doi: 10.1002/cre2.61. eCollection 2017 Apr.

Cytokines are thought to play an important role in the pathogenesis of periodontal disease. Because periodontal disease is known for its inhomogeneous distribution within the dentition, it is unclear to what extent the detection of various cytokines at different...

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Zekeridou A, Giannopoulou C, Cancela J, et al. Effect of initial periodontal therapy on gingival crevicular fluid cytokine profile in subjects with chronic periodontitis. Clin Exp Dent Res. 2017;3(2):62-68doi: 10.1002/cre2.61.
Zekeridou, A., Giannopoulou, C., Cancela, J., Courvoisier, D., & Mombelli, A. (2017). Effect of initial periodontal therapy on gingival crevicular fluid cytokine profile in subjects with chronic periodontitis. Clinical and experimental dental research, 3(2), 62-68. https://doi.org/10.1002/cre2.61
Zekeridou, A, et al. "Effect of initial periodontal therapy on gingival crevicular fluid cytokine profile in subjects with chronic periodontitis." Clinical and experimental dental research vol. 3,2 (2017): 62-68. doi: https://doi.org/10.1002/cre2.61
Zekeridou A, Giannopoulou C, Cancela J, Courvoisier D, Mombelli A. Effect of initial periodontal therapy on gingival crevicular fluid cytokine profile in subjects with chronic periodontitis. Clin Exp Dent Res. 2017 Apr 12;3(2):62-68. doi: 10.1002/cre2.61. eCollection 2017 Apr. PMID: 29744180; PMCID: PMC5719814.
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The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation.

Oncotarget

Bianchi C, Meregalli C, Bombelli S, Di Stefano V, Salerno F, Torsello B, De Marco S, Bovo G, Cifola I, Mangano E, Battaglia C, Strada G, Lucarelli G, Weiss RH, Perego RA.
PMID: 29371925
Oncotarget. 2017 Dec 08;8(69):113502-113515. doi: 10.18632/oncotarget.23056. eCollection 2017 Dec 26.

Clear cell renal cell carcinoma (ccRCC) has a poor prognosis despite novel biological targeted therapies. Tumor aggressiveness and poor survival may correlate with tumor grade at diagnosis and with complex metabolic alterations, also involving glucose and lipid metabolism. However,...

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Bianchi C, Meregalli C, Bombelli S, et al. The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation. Oncotarget. 2017;8(69):113502-113515doi: 10.18632/oncotarget.23056.
Bianchi, C., Meregalli, C., Bombelli, S., Di Stefano, V., Salerno, F., Torsello, B., De Marco, S., Bovo, G., Cifola, I., Mangano, E., Battaglia, C., Strada, G., Lucarelli, G., Weiss, R. H., & Perego, R. A. (2017). The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation. Oncotarget, 8(69), 113502-113515. https://doi.org/10.18632/oncotarget.23056
Bianchi, Cristina, et al. "The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation." Oncotarget vol. 8,69 (2017): 113502-113515. doi: https://doi.org/10.18632/oncotarget.23056
Bianchi C, Meregalli C, Bombelli S, Di Stefano V, Salerno F, Torsello B, De Marco S, Bovo G, Cifola I, Mangano E, Battaglia C, Strada G, Lucarelli G, Weiss RH, Perego RA. The glucose and lipid metabolism reprogramming is grade-dependent in clear cell renal cell carcinoma primary cultures and is targetable to modulate cell viability and proliferation. Oncotarget. 2017 Dec 08;8(69):113502-113515. doi: 10.18632/oncotarget.23056. eCollection 2017 Dec 26. PMID: 29371925; PMCID: PMC5768342.
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Molecular imaging of multiple sclerosis: from the clinical demand to novel radiotracers.

EJNMMI radiopharmacy and chemistry

Bauckneht M, Capitanio S, Raffa S, Roccatagliata L, Pardini M, Lapucci C, Marini C, Sambuceti G, Inglese M, Gallo P, Cecchin D, Nobili F, Morbelli S.
PMID: 31659498
EJNMMI Radiopharm Chem. 2019 Apr 08;4(1):6. doi: 10.1186/s41181-019-0058-3.

BACKGROUND: Brain PET imaging with different tracers is mainly clinically used in the field of neurodegenerative diseases and brain tumors. In recent years, the potential usefulness of PET has also gained attention in the field of MS. In fact,...

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Bauckneht M, Capitanio S, Raffa S, et al. Molecular imaging of multiple sclerosis: from the clinical demand to novel radiotracers. EJNMMI Radiopharm Chem. 2019;4(1):6doi: 10.1186/s41181-019-0058-3.
Bauckneht, M., Capitanio, S., Raffa, S., Roccatagliata, L., Pardini, M., Lapucci, C., Marini, C., Sambuceti, G., Inglese, M., Gallo, P., Cecchin, D., Nobili, F., & Morbelli, S. (2019). Molecular imaging of multiple sclerosis: from the clinical demand to novel radiotracers. EJNMMI radiopharmacy and chemistry, 4(1), 6. https://doi.org/10.1186/s41181-019-0058-3
Bauckneht, Matteo, et al. "Molecular imaging of multiple sclerosis: from the clinical demand to novel radiotracers." EJNMMI radiopharmacy and chemistry vol. 4,1 (2019): 6. doi: https://doi.org/10.1186/s41181-019-0058-3
Bauckneht M, Capitanio S, Raffa S, Roccatagliata L, Pardini M, Lapucci C, Marini C, Sambuceti G, Inglese M, Gallo P, Cecchin D, Nobili F, Morbelli S. Molecular imaging of multiple sclerosis: from the clinical demand to novel radiotracers. EJNMMI Radiopharm Chem. 2019 Apr 08;4(1):6. doi: 10.1186/s41181-019-0058-3. PMID: 31659498; PMCID: PMC6453990.
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Is There Still a Role for Endocrine Therapy Alone in HR+/HER2- Advanced Breast Cancer Patients? Results from the Analysis of Two Data Sets of Patients Treated with High-Dose Fulvestrant as First-Line Therapy in the Real-World Setting: The EVA and GIM-13 AMBRA Studies.

Breast care (Basel, Switzerland)

Cazzaniga ME, Verusio C, Ciccarese M, Fumagalli A, Sartori D, Valerio MR, Airoldi M, Moretti G, Ficorella C, Gianni L, Michelotti A, Zambelli A, Febbraro A, Generali D, Pistelli M, Garrone O, Musolino A, Vici P, Maur M, Mentuccia L, La Verde N, Bianchi GV, Artale S, Blasi L, De Laurentiis M, Atzori F, Turletti A, Porpiglia M, Santini D, Fabi A, Gebbia V, Schirone A, Palumbo R, Ferzi A, Frassoldati A, Scavelli C, Clivio L, Giordano M, Donadio M, Biganzoli L, Del Mastro L, Bisagni G, Livi L, Natoli C, Montemurro F, Riccardi F, Romagnoli E, Marchetti P, Torri V, Pronzato P, Mustacchi G.
PMID: 32231495
Breast Care (Basel). 2020 Feb;15(1):30-37. doi: 10.1159/000495469. Epub 2019 Apr 17.

BACKGROUND: Different studies suggest that fulvestrant 500 mg every 28 days (HD-FUL) could be an active treatment in HR+ advanced breast cancer (ABC) patients even treated with aromatase inhibitors in the adjuvant setting. The aim of this analysis is...

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Cazzaniga ME, Verusio C, Ciccarese M, et al. Is There Still a Role for Endocrine Therapy Alone in HR+/HER2- Advanced Breast Cancer Patients? Results from the Analysis of Two Data Sets of Patients Treated with High-Dose Fulvestrant as First-Line Therapy in the Real-World Setting: The EVA and GIM-13 AMBRA Studies. Breast Care (Basel). 2019;15(1):30-37doi: 10.1159/000495469.
Cazzaniga, M. E., Verusio, C., Ciccarese, M., Fumagalli, A., Sartori, D., Valerio, M. R., Airoldi, M., Moretti, G., Ficorella, C., Gianni, L., Michelotti, A., Zambelli, A., Febbraro, A., Generali, D., Pistelli, M., Garrone, O., Musolino, A., Vici, P., Maur, M., Mentuccia, L., La Verde, N., Bianchi, G. V., Artale, S., Blasi, L., De Laurentiis, M., Atzori, F., Turletti, A., Porpiglia, M., Santini, D., Fabi, A., Gebbia, V., Schirone, A., Palumbo, R., Ferzi, A., Frassoldati, A., Scavelli, C., Clivio, L., Giordano, M., Donadio, M., Biganzoli, L., Del Mastro, L., Bisagni, G., Livi, L., Natoli, C., Montemurro, F., Riccardi, F., Romagnoli, E., Marchetti, P., Torri, V., Pronzato, P., & Mustacchi, G. (2020). Is There Still a Role for Endocrine Therapy Alone in HR+/HER2- Advanced Breast Cancer Patients? Results from the Analysis of Two Data Sets of Patients Treated with High-Dose Fulvestrant as First-Line Therapy in the Real-World Setting: The EVA and GIM-13 AMBRA Studies. Breast care (Basel, Switzerland), 15(1), 30-37. https://doi.org/10.1159/000495469
Cazzaniga, Marina Elena, et al. "Is There Still a Role for Endocrine Therapy Alone in HR+/HER2- Advanced Breast Cancer Patients? Results from the Analysis of Two Data Sets of Patients Treated with High-Dose Fulvestrant as First-Line Therapy in the Real-World Setting: The EVA and GIM-13 AMBRA Studies." Breast care (Basel, Switzerland) vol. 15,1 (2020): 30-37. doi: https://doi.org/10.1159/000495469
Cazzaniga ME, Verusio C, Ciccarese M, Fumagalli A, Sartori D, Valerio MR, Airoldi M, Moretti G, Ficorella C, Gianni L, Michelotti A, Zambelli A, Febbraro A, Generali D, Pistelli M, Garrone O, Musolino A, Vici P, Maur M, Mentuccia L, La Verde N, Bianchi GV, Artale S, Blasi L, De Laurentiis M, Atzori F, Turletti A, Porpiglia M, Santini D, Fabi A, Gebbia V, Schirone A, Palumbo R, Ferzi A, Frassoldati A, Scavelli C, Clivio L, Giordano M, Donadio M, Biganzoli L, Del Mastro L, Bisagni G, Livi L, Natoli C, Montemurro F, Riccardi F, Romagnoli E, Marchetti P, Torri V, Pronzato P, Mustacchi G. Is There Still a Role for Endocrine Therapy Alone in HR+/HER2- Advanced Breast Cancer Patients? Results from the Analysis of Two Data Sets of Patients Treated with High-Dose Fulvestrant as First-Line Therapy in the Real-World Setting: The EVA and GIM-13 AMBRA Studies. Breast Care (Basel). 2020 Feb;15(1):30-37. doi: 10.1159/000495469. Epub 2019 Apr 17. PMID: 32231495; PMCID: PMC7098305.
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Correction to: Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study.

Nutrition journal

Ruscica M, Pavanello C, Gandini S, Macchi C, Botta M, Dall'Orto D, Del Puppo M, Bertolotti M, Bosisio R, Mombelli G, Sirtori CR, Calabresi L, Magni P.
PMID: 31500629
Nutr J. 2019 Sep 09;18(1):54. doi: 10.1186/s12937-019-0483-x.

Following publication of the original article [1], the authors reported an error in the affiliation of the third author, Sara Gandini. The correct affiliation should read: Division of Epidemiology and Biostatistics, IEO, European Institute of Oncology IRCCS, Milan, Italy.

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Ruscica M, Pavanello C, Gandini S, et al. Correction to: Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study. Nutr J. 2019;18(1):54doi: 10.1186/s12937-019-0483-x.
Ruscica, M., Pavanello, C., Gandini, S., Macchi, C., Botta, M., Dall'Orto, D., Del Puppo, M., Bertolotti, M., Bosisio, R., Mombelli, G., Sirtori, C. R., Calabresi, L., & Magni, P. (2019). Correction to: Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study. Nutrition journal, 18(1), 54. https://doi.org/10.1186/s12937-019-0483-x
Ruscica, Massimiliano, et al. "Correction to: Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study." Nutrition journal vol. 18,1 (2019): 54. doi: https://doi.org/10.1186/s12937-019-0483-x
Ruscica M, Pavanello C, Gandini S, Macchi C, Botta M, Dall'Orto D, Del Puppo M, Bertolotti M, Bosisio R, Mombelli G, Sirtori CR, Calabresi L, Magni P. Correction to: Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study. Nutr J. 2019 Sep 09;18(1):54. doi: 10.1186/s12937-019-0483-x. PMID: 31500629; PMCID: PMC6734387.
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Deletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures.

Cell calcium

Tapella L, Dematteis G, Ruffinatti FA, Ponzoni L, Fiordaliso F, Corbelli A, Albanese E, Pistolato B, Pagano J, Barberis E, Marengo E, Balducci C, Forloni G, Verpelli C, Sala C, Distasi C, Sala M, Manfredi M, Genazzani AA, Lim D.
PMID: 34607180
Cell Calcium. 2021 Dec;100:102480. doi: 10.1016/j.ceca.2021.102480. Epub 2021 Sep 26.

Calcineurin (CaN), acting downstream of intracellular calcium signals, orchestrates cellular remodeling in many cellular types. In astrocytes, major homeostatic players in the central nervous system (CNS), CaN is involved in neuroinflammation and gliosis, while its role in healthy CNS...

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Tapella L, Dematteis G, Ruffinatti FA, et al. Deletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures. Cell Calcium. 2021;100:102480doi: 10.1016/j.ceca.2021.102480.
Tapella, L., Dematteis, G., Ruffinatti, F. A., Ponzoni, L., Fiordaliso, F., Corbelli, A., Albanese, E., Pistolato, B., Pagano, J., Barberis, E., Marengo, E., Balducci, C., Forloni, G., Verpelli, C., Sala, C., Distasi, C., Sala, M., Manfredi, M., Genazzani, A. A., & Lim, D. (2021). Deletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures. Cell calcium, 100102480. https://doi.org/10.1016/j.ceca.2021.102480
Tapella, Laura, et al. "Deletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures." Cell calcium vol. 100 (2021): 102480. doi: https://doi.org/10.1016/j.ceca.2021.102480
Tapella L, Dematteis G, Ruffinatti FA, Ponzoni L, Fiordaliso F, Corbelli A, Albanese E, Pistolato B, Pagano J, Barberis E, Marengo E, Balducci C, Forloni G, Verpelli C, Sala C, Distasi C, Sala M, Manfredi M, Genazzani AA, Lim D. Deletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures. Cell Calcium. 2021 Dec;100:102480. doi: 10.1016/j.ceca.2021.102480. Epub 2021 Sep 26. PMID: 34607180.
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Spleen Perfusion as an Index of Gender Impact on Sympathetic Nervous System Response to Exercise.

Frontiers in physiology

Lanfranchi F, D'Amico F, Raffa S, Pennone M, Donegani MI, Miceli A, Chiola S, Maggio S, Delucchi C, Cossu V, Morbelli S, Bauckneht M, Sambuceti G, Marini C.
PMID: 34975534
Front Physiol. 2021 Dec 15;12:780713. doi: 10.3389/fphys.2021.780713. eCollection 2021.

No abstract available.

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Lanfranchi F, D'Amico F, Raffa S, et al. Spleen Perfusion as an Index of Gender Impact on Sympathetic Nervous System Response to Exercise. Front Physiol. 2021;12:780713doi: 10.3389/fphys.2021.780713.
Lanfranchi, F., D'Amico, F., Raffa, S., Pennone, M., Donegani, M. I., Miceli, A., Chiola, S., Maggio, S., Delucchi, C., Cossu, V., Morbelli, S., Bauckneht, M., Sambuceti, G., & Marini, C. (2021). Spleen Perfusion as an Index of Gender Impact on Sympathetic Nervous System Response to Exercise. Frontiers in physiology, 12780713. https://doi.org/10.3389/fphys.2021.780713
Lanfranchi, Francesco, et al. "Spleen Perfusion as an Index of Gender Impact on Sympathetic Nervous System Response to Exercise." Frontiers in physiology vol. 12 (2021): 780713. doi: https://doi.org/10.3389/fphys.2021.780713
Lanfranchi F, D'Amico F, Raffa S, Pennone M, Donegani MI, Miceli A, Chiola S, Maggio S, Delucchi C, Cossu V, Morbelli S, Bauckneht M, Sambuceti G, Marini C. Spleen Perfusion as an Index of Gender Impact on Sympathetic Nervous System Response to Exercise. Front Physiol. 2021 Dec 15;12:780713. doi: 10.3389/fphys.2021.780713. eCollection 2021. PMID: 34975534; PMCID: PMC8715039.
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Immunosuppressant quantification in intravenous microdialysate - towards novel quasi-continuous therapeutic drug monitoring in transplanted patients.

Clinical chemistry and laboratory medicine

Weber S, Tombelli S, Giannetti A, Trono C, O'Connell M, Wen M, Descalzo AB, Bittersohl H, Bietenbeck A, Marquet P, Renders L, Orellana G, Baldini F, Luppa PB.
PMID: 33554521
Clin Chem Lab Med. 2020 Dec 15;59(5):935-945. doi: 10.1515/cclm-2020-1542. Print 2021 Apr 27.

OBJECTIVES: Therapeutic drug monitoring (TDM) plays a crucial role in personalized medicine. It helps clinicians to tailor drug dosage for optimized therapy through understanding the underlying complex pharmacokinetics and pharmacodynamics. Conventional, non-continuous TDM fails to provide real-time information, which...

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Weber S, Tombelli S, Giannetti A, et al. Immunosuppressant quantification in intravenous microdialysate - towards novel quasi-continuous therapeutic drug monitoring in transplanted patients. Clin Chem Lab Med. 2020;59(5):935-945doi: 10.1515/cclm-2020-1542.
Weber, S., Tombelli, S., Giannetti, A., Trono, C., O'Connell, M., Wen, M., Descalzo, A. B., Bittersohl, H., Bietenbeck, A., Marquet, P., Renders, L., Orellana, G., Baldini, F., & Luppa, P. B. (2021). Immunosuppressant quantification in intravenous microdialysate - towards novel quasi-continuous therapeutic drug monitoring in transplanted patients. Clinical chemistry and laboratory medicine, 59(5), 935-945. https://doi.org/10.1515/cclm-2020-1542
Weber, Susanne, et al. "Immunosuppressant quantification in intravenous microdialysate - towards novel quasi-continuous therapeutic drug monitoring in transplanted patients." Clinical chemistry and laboratory medicine vol. 59,5 (2021): 935-945. doi: https://doi.org/10.1515/cclm-2020-1542
Weber S, Tombelli S, Giannetti A, Trono C, O'Connell M, Wen M, Descalzo AB, Bittersohl H, Bietenbeck A, Marquet P, Renders L, Orellana G, Baldini F, Luppa PB. Immunosuppressant quantification in intravenous microdialysate - towards novel quasi-continuous therapeutic drug monitoring in transplanted patients. Clin Chem Lab Med. 2020 Dec 15;59(5):935-945. doi: 10.1515/cclm-2020-1542. Print 2021 Apr 27. PMID: 33554521.
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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

Genetics in medicine : official journal of the American College of Medical Genetics

Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F.
PMID: 34906452
Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30.

PURPOSE: This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. Alleles with >49 CAG/CAA repeats are fully penetrant. Most patients, however,...

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Magri S, Nanetti L, Gellera C, et al. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med. 2021;24(1):29-40doi: 10.1016/j.gim.2021.08.003.
Magri, S., Nanetti, L., Gellera, C., Sarto, E., Rizzo, E., Mongelli, A., Ricci, B., Fancellu, R., Sambati, L., Cortelli, P., Brusco, A., Bruzzone, M. G., Mariotti, C., Di Bella, D., & Taroni, F. (2022). Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genetics in medicine : official journal of the American College of Medical Genetics, 24(1), 29-40. https://doi.org/10.1016/j.gim.2021.08.003
Magri, Stefania, et al. "Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48." Genetics in medicine : official journal of the American College of Medical Genetics vol. 24,1 (2022): 29-40. doi: https://doi.org/10.1016/j.gim.2021.08.003
Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30. PMID: 34906452.
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Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families.

JACC. Case reports

De Gregorio MG, Girolami F, Tomberli B, Rossi G, Tomberli A, Baldini K, Olivotto I.
PMID: 34317383
JACC Case Rep. 2020 Jun 17;2(6):925-929. doi: 10.1016/j.jaccas.2020.03.033. eCollection 2020 Jun.

In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk...

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De Gregorio MG, Girolami F, Tomberli B, et al. Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families. JACC Case Rep. 2020;2(6):925-929doi: 10.1016/j.jaccas.2020.03.033.
De Gregorio, M. G., Girolami, F., Tomberli, B., Rossi, G., Tomberli, A., Baldini, K., & Olivotto, I. (2020). Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families. JACC. Case reports, 2(6), 925-929. https://doi.org/10.1016/j.jaccas.2020.03.033
De Gregorio, Maria Grazia, et al. "Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families." JACC. Case reports vol. 2,6 (2020): 925-929. doi: https://doi.org/10.1016/j.jaccas.2020.03.033
De Gregorio MG, Girolami F, Tomberli B, Rossi G, Tomberli A, Baldini K, Olivotto I. Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families. JACC Case Rep. 2020 Jun 17;2(6):925-929. doi: 10.1016/j.jaccas.2020.03.033. eCollection 2020 Jun. PMID: 34317383; PMCID: PMC8302052.
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