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Working formulation nomenclature of heart transplant pathology: A retrospective evaluation of 1037 endomyocardial biopsies.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Gallo P, Grillo LR, di Giuia C, Coppola L, Francalanci P, d'Amati G.
PMID: 25990119
Cardiovasc Pathol. 1992 Apr-Jun;1(2):87-92. doi: 10.1016/1054-8807(92)90011-C.

Working Formulation (WF) was recently introduced by the International Society for Heart Transplantation to grade acute cellular rejection, as well as additional lesions observed in endomyocardial biopsies (EMBs). The aim of this study was to evaluate the actual advantages...

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Gallo P, Grillo LR, di Giuia C, et al. Working formulation nomenclature of heart transplant pathology: A retrospective evaluation of 1037 endomyocardial biopsies. Cardiovasc Pathol. 1992;1(2):87-92doi: 10.1016/1054-8807(92)90011-C.
Gallo, P., Grillo, L. R., di Giuia, C., Coppola, L., Francalanci, P., & d'Amati, G. (1992). Working formulation nomenclature of heart transplant pathology: A retrospective evaluation of 1037 endomyocardial biopsies. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 1(2), 87-92. https://doi.org/10.1016/1054-8807(92)90011-C
Gallo, P, et al. "Working formulation nomenclature of heart transplant pathology: A retrospective evaluation of 1037 endomyocardial biopsies." Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology vol. 1,2 (1992): 87-92. doi: https://doi.org/10.1016/1054-8807(92)90011-C
Gallo P, Grillo LR, di Giuia C, Coppola L, Francalanci P, d'Amati G. Working formulation nomenclature of heart transplant pathology: A retrospective evaluation of 1037 endomyocardial biopsies. Cardiovasc Pathol. 1992 Apr-Jun;1(2):87-92. doi: 10.1016/1054-8807(92)90011-C. PMID: 25990119.
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Reply from the authors.

Hepatology research : the official journal of the Japan Society of Hepatology

Giovannoni I, Francalanci P, Santorelli FM.
PMID: 23094857
Hepatol Res. 2012 Nov;42(11):1153. doi: 10.1111/j.1872-034X.2012.01053.x.

No abstract available.

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Giovannoni I, Francalanci P, Santorelli FM. Reply from the authors. Hepatol Res. 2012;42(11):1153doi: 10.1111/j.1872-034X.2012.01053.x.
Giovannoni, I., Francalanci, P., & Santorelli, F. M. (2012). Reply from the authors. Hepatology research : the official journal of the Japan Society of Hepatology, 42(11), 1153. https://doi.org/10.1111/j.1872-034X.2012.01053.x
Giovannoni, Isabella, et al. "Reply from the authors." Hepatology research : the official journal of the Japan Society of Hepatology vol. 42,11 (2012): 1153. doi: https://doi.org/10.1111/j.1872-034X.2012.01053.x
Giovannoni I, Francalanci P, Santorelli FM. Reply from the authors. Hepatol Res. 2012 Nov;42(11):1153. doi: 10.1111/j.1872-034X.2012.01053.x. PMID: 23094857.
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AIRE mutation triggering acute liver failure: between genetic testing and treatment options.

Pediatric transplantation

Pietrobattista A, Della Corte C, Francalanci P, Lepri FR, Maggiore G.
PMID: 34396649
Pediatr Transplant. 2021 Dec;25(8):e14118. doi: 10.1111/petr.14118. Epub 2021 Aug 16.

No abstract available.

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Pietrobattista A, Della Corte C, Francalanci P, et al. AIRE mutation triggering acute liver failure: between genetic testing and treatment options. Pediatr Transplant. 2021;25(8):e14118doi: 10.1111/petr.14118.
Pietrobattista, A., Della Corte, C., Francalanci, P., Lepri, F. R., & Maggiore, G. (2021). AIRE mutation triggering acute liver failure: between genetic testing and treatment options. Pediatric transplantation, 25(8), e14118. https://doi.org/10.1111/petr.14118
Pietrobattista, Andrea, et al. "AIRE mutation triggering acute liver failure: between genetic testing and treatment options." Pediatric transplantation vol. 25,8 (2021): e14118. doi: https://doi.org/10.1111/petr.14118
Pietrobattista A, Della Corte C, Francalanci P, Lepri FR, Maggiore G. AIRE mutation triggering acute liver failure: between genetic testing and treatment options. Pediatr Transplant. 2021 Dec;25(8):e14118. doi: 10.1111/petr.14118. Epub 2021 Aug 16. PMID: 34396649.
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Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype.

Respiratory medicine

Carnovale V, Iacotucci P, Terlizzi V, Colangelo C, Medio P, Ferrillo L, De Gregorio F, Francalanci M, Taccetti G, Buonaurio S, d'Ippolito M, Marsicovetere G, D'Andria M, Ferrara N, Salvatore D.
PMID: 34673344
Respir Med. 2021 Nov-Dec;189:106646. doi: 10.1016/j.rmed.2021.106646. Epub 2021 Oct 12.

BACKGROUND: Elexacaftor/tezacaftor/ivacaftor (E/T/I) is a cystic fibrosis transmembrane conductance regulator (CFTR) triple combination therapy used for the treatment of cystic fibrosis (CF) in patients aged ≥12 years who have at least one copy of the Phe508del mutation (F) in...

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Carnovale V, Iacotucci P, Terlizzi V, et al. Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype. Respir Med. 2021;189:106646doi: 10.1016/j.rmed.2021.106646.
Carnovale, V., Iacotucci, P., Terlizzi, V., Colangelo, C., Medio, P., Ferrillo, L., De Gregorio, F., Francalanci, M., Taccetti, G., Buonaurio, S., d'Ippolito, M., Marsicovetere, G., D'Andria, M., Ferrara, N., & Salvatore, D. (2021). Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype. Respiratory medicine, 189106646. https://doi.org/10.1016/j.rmed.2021.106646
Carnovale, Vincenzo, et al. "Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype." Respiratory medicine vol. 189 (2021): 106646. doi: https://doi.org/10.1016/j.rmed.2021.106646
Carnovale V, Iacotucci P, Terlizzi V, Colangelo C, Medio P, Ferrillo L, De Gregorio F, Francalanci M, Taccetti G, Buonaurio S, d'Ippolito M, Marsicovetere G, D'Andria M, Ferrara N, Salvatore D. Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype. Respir Med. 2021 Nov-Dec;189:106646. doi: 10.1016/j.rmed.2021.106646. Epub 2021 Oct 12. PMID: 34673344.
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Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis.

Advances in anatomic pathology

Parente P, Mastracci L, Vanoli A, Fassan M, Pastore M, Bossa F, Francalanci P, Alaggio R, Graziano P, Grillo F.
PMID: 34620740
Adv Anat Pathol. 2021 Oct 07; doi: 10.1097/PAP.0000000000000323. Epub 2021 Oct 07.

Very early onset inflammatory bowel disease (VEO-IBD) is a clinical umbrella classification composed of IBD-like diseases encompassing both classic IBD (Crohn's disease and ulcerative colitis) and monogenic disorder, both arising before 6 years of age. VEO-IBD patients present significant...

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Parente P, Mastracci L, Vanoli A, et al. Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis. Adv Anat Pathol. 2021;doi: 10.1097/PAP.0000000000000323.
Parente, P., Mastracci, L., Vanoli, A., Fassan, M., Pastore, M., Bossa, F., Francalanci, P., Alaggio, R., Graziano, P., & Grillo, F. (2021). Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis. Advances in anatomic pathology, . https://doi.org/10.1097/PAP.0000000000000323
Parente, Paola, et al. "Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis." Advances in anatomic pathology vol. (2021). doi: https://doi.org/10.1097/PAP.0000000000000323
Parente P, Mastracci L, Vanoli A, Fassan M, Pastore M, Bossa F, Francalanci P, Alaggio R, Graziano P, Grillo F. Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis. Adv Anat Pathol. 2021 Oct 07; doi: 10.1097/PAP.0000000000000323. Epub 2021 Oct 07. PMID: 34620740.
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Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.

European journal of gastroenterology & hepatology

Angelino G, Cifaldi C, Zangari P, Di Cesare S, Di Matteo G, Chiriaco M, Francalanci P, Faraci S, Rea F, Romeo EF, Amodio D, Ursu GM, Bertocchini A, Accinni A, Crocoli A, Inserra A, Cozza R, Romano C, Licciardello M, Rinelli M, Dall'Oglio L, Cancrini C, De Angelis P, Finocchi A.
PMID: 34034269
Eur J Gastroenterol Hepatol. 2021 May 21; doi: 10.1097/MEG.0000000000002185. Epub 2021 May 21.

Gut involvement is frequent in immunologic disorders, especially with inflammatory manifestations but also with cancer. In the last years, advances in functional and genetic testing have improved the diagnostic and therapeutic approach to immune dysregulation syndromes. CTLA-4 deficiency is...

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Angelino G, Cifaldi C, Zangari P, et al. Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept. Eur J Gastroenterol Hepatol. 2021;doi: 10.1097/MEG.0000000000002185.
Angelino, G., Cifaldi, C., Zangari, P., Di Cesare, S., Di Matteo, G., Chiriaco, M., Francalanci, P., Faraci, S., Rea, F., Romeo, E. F., Amodio, D., Ursu, G. M., Bertocchini, A., Accinni, A., Crocoli, A., Inserra, A., Cozza, R., Romano, C., Licciardello, M., Rinelli, M., Dall'Oglio, L., Cancrini, C., De Angelis, P., & Finocchi, A. (2021). Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept. European journal of gastroenterology & hepatology, . https://doi.org/10.1097/MEG.0000000000002185
Angelino, Giulia, et al. "Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept." European journal of gastroenterology & hepatology vol. (2021). doi: https://doi.org/10.1097/MEG.0000000000002185
Angelino G, Cifaldi C, Zangari P, Di Cesare S, Di Matteo G, Chiriaco M, Francalanci P, Faraci S, Rea F, Romeo EF, Amodio D, Ursu GM, Bertocchini A, Accinni A, Crocoli A, Inserra A, Cozza R, Romano C, Licciardello M, Rinelli M, Dall'Oglio L, Cancrini C, De Angelis P, Finocchi A. Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept. Eur J Gastroenterol Hepatol. 2021 May 21; doi: 10.1097/MEG.0000000000002185. Epub 2021 May 21. PMID: 34034269.
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Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.

Cells

Taranta A, Elmonem MA, Bellomo F, De Leo E, Boenzi S, Janssen MJ, Jamalpoor A, Cairoli S, Pastore A, De Stefanis C, Colucci M, Rega LR, Giovannoni I, Francalanci P, van den Heuvel LP, Dionisi-Vici C, Goffredo BM, Masereeuw R, Levtchenko E, Emma F.
PMID: 34943802
Cells. 2021 Nov 24;10(12). doi: 10.3390/cells10123294.

Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal complications related to cystine...

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Taranta A, Elmonem MA, Bellomo F, et al. Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. Cells. 2021;10(12)doi: 10.3390/cells10123294.
Taranta, A., Elmonem, M. A., Bellomo, F., De Leo, E., Boenzi, S., Janssen, M. J., Jamalpoor, A., Cairoli, S., Pastore, A., De Stefanis, C., Colucci, M., Rega, L. R., Giovannoni, I., Francalanci, P., van den Heuvel, L. P., Dionisi-Vici, C., Goffredo, B. M., Masereeuw, R., Levtchenko, E., & Emma, F. (2021). Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. Cells, 10(12), . https://doi.org/10.3390/cells10123294
Taranta, Anna, et al. "Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis." Cells vol. 10,12 (2021). doi: https://doi.org/10.3390/cells10123294
Taranta A, Elmonem MA, Bellomo F, De Leo E, Boenzi S, Janssen MJ, Jamalpoor A, Cairoli S, Pastore A, De Stefanis C, Colucci M, Rega LR, Giovannoni I, Francalanci P, van den Heuvel LP, Dionisi-Vici C, Goffredo BM, Masereeuw R, Levtchenko E, Emma F. Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. Cells. 2021 Nov 24;10(12). doi: 10.3390/cells10123294. PMID: 34943802; PMCID: PMC8699074.
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Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease.

Obesity surgery

Pastore A, Panera N, Mosca A, Caccamo R, Camanni D, Crudele A, De Stefanis C, Alterio A, Di Giovamberardino G, De Vito R, Francalanci P, Battaglia S, Muda AO, De Peppo F, Alisi A.
PMID: 34546515
Obes Surg. 2022 Jan;32(1):82-89. doi: 10.1007/s11695-021-05701-6. Epub 2021 Sep 21.

PURPOSE: Paediatric obesity is a well-known risk factor for metabolic-associated fatty liver disease (MAFLD). The aim of this study was to evaluate the effects of laparoscopic sleeve gastrectomy (LSG) on the levels of total homocysteine (tHcy) and total glutathione...

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Pastore A, Panera N, Mosca A, et al. Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease. Obes Surg. 2021;32(1):82-89doi: 10.1007/s11695-021-05701-6.
Pastore, A., Panera, N., Mosca, A., Caccamo, R., Camanni, D., Crudele, A., De Stefanis, C., Alterio, A., Di Giovamberardino, G., De Vito, R., Francalanci, P., Battaglia, S., Muda, A. O., De Peppo, F., & Alisi, A. (2022). Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease. Obesity surgery, 32(1), 82-89. https://doi.org/10.1007/s11695-021-05701-6
Pastore, Anna, et al. "Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease." Obesity surgery vol. 32,1 (2022): 82-89. doi: https://doi.org/10.1007/s11695-021-05701-6
Pastore A, Panera N, Mosca A, Caccamo R, Camanni D, Crudele A, De Stefanis C, Alterio A, Di Giovamberardino G, De Vito R, Francalanci P, Battaglia S, Muda AO, De Peppo F, Alisi A. Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease. Obes Surg. 2022 Jan;32(1):82-89. doi: 10.1007/s11695-021-05701-6. Epub 2021 Sep 21. PMID: 34546515.
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Epidemiology of Invasive Pulmonary Aspergillosis Among Intubated Patients With COVID-19: A Prospective Study.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

Bartoletti M, Pascale R, Cricca M, Rinaldi M, Maccaro A, Bussini L, Fornaro G, Tonetti T, Pizzilli G, Francalanci E, Giuntoli L, Rubin A, Moroni A, Ambretti S, Trapani F, Vatamanu O, Ranieri VM, Castelli A, Baiocchi M, Lewis R, Giannella M, Viale P.
PMID: 32719848
Clin Infect Dis. 2021 Dec 06;73(11):e3606-e3614. doi: 10.1093/cid/ciaa1065.

BACKGROUND: We evaluated the incidence of invasive pulmonary aspergillosis among intubated patients with critical COVID-19 and evaluated different case definitions of invasive aspergillosis.METHODS: Prospective, multicenter study in adult patients with microbiologically confirmed COVID-19 receiving mechanical ventilation. All included participants...

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Bartoletti M, Pascale R, Cricca M, et al. Epidemiology of Invasive Pulmonary Aspergillosis Among Intubated Patients With COVID-19: A Prospective Study. Clin Infect Dis. 2021;73(11):e3606-e3614doi: 10.1093/cid/ciaa1065.
Bartoletti, M., Pascale, R., Cricca, M., Rinaldi, M., Maccaro, A., Bussini, L., Fornaro, G., Tonetti, T., Pizzilli, G., Francalanci, E., Giuntoli, L., Rubin, A., Moroni, A., Ambretti, S., Trapani, F., Vatamanu, O., Ranieri, V. M., Castelli, A., Baiocchi, M., Lewis, R., Giannella, M., Viale, P. (2021). Epidemiology of Invasive Pulmonary Aspergillosis Among Intubated Patients With COVID-19: A Prospective Study. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 73(11), e3606-e3614. https://doi.org/10.1093/cid/ciaa1065
Bartoletti, Michele, et al. "Epidemiology of Invasive Pulmonary Aspergillosis Among Intubated Patients With COVID-19: A Prospective Study." Clinical infectious diseases : an official publication of the Infectious Diseases Society of America vol. 73,11 (2021): e3606-e3614. doi: https://doi.org/10.1093/cid/ciaa1065
Bartoletti M, Pascale R, Cricca M, Rinaldi M, Maccaro A, Bussini L, Fornaro G, Tonetti T, Pizzilli G, Francalanci E, Giuntoli L, Rubin A, Moroni A, Ambretti S, Trapani F, Vatamanu O, Ranieri VM, Castelli A, Baiocchi M, Lewis R, Giannella M, Viale P. Epidemiology of Invasive Pulmonary Aspergillosis Among Intubated Patients With COVID-19: A Prospective Study. Clin Infect Dis. 2021 Dec 06;73(11):e3606-e3614. doi: 10.1093/cid/ciaa1065. PMID: 32719848; PMCID: PMC7454393.
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Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Francalanci P, Marino B, Boldrini R, Abella R, Iorio F, Bosman C.
PMID: 25851476
Cardiovasc Pathol. 1996 May-Jun;5(3):145-51. doi: 10.1016/1054-8807(95)00117-4.

The high risk of atrioventricular (AV) valve regurgitation is a major point of concern in the natural history of patients with atrioventricular canal defect (AVCD) and asplenia syndrome (AS). The morphology of the common AV valve in patients with...

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Francalanci P, Marino B, Boldrini R, et al. Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect. Cardiovasc Pathol. 1996;5(3):145-51doi: 10.1016/1054-8807(95)00117-4.
Francalanci, P., Marino, B., Boldrini, R., Abella, R., Iorio, F., & Bosman, C. (1996). Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 5(3), 145-51. https://doi.org/10.1016/1054-8807(95)00117-4
Francalanci, P, et al. "Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect." Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology vol. 5,3 (1996): 145-51. doi: https://doi.org/10.1016/1054-8807(95)00117-4
Francalanci P, Marino B, Boldrini R, Abella R, Iorio F, Bosman C. Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect. Cardiovasc Pathol. 1996 May-Jun;5(3):145-51. doi: 10.1016/1054-8807(95)00117-4. PMID: 25851476.
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First insights on the mitochondrial genetic variability of Lightiella magdalenina (Crustacea), the sole Mediterranean cephalocarid species.

Journal of biological research (Thessalonike, Greece)

Sanna D, Addis A, Scarpa F, Fabiano F, Carcupino M, Francalacci P.
PMID: 25984488
J Biol Res (Thessalon). 2014 May 13;21(1):5. doi: 10.1186/2241-5793-21-5. eCollection 2014 Dec.

BACKGROUND: Here we report the first insight into the mitochondrial (Cytochrome c Oxidase subunit I - COI and Cytochrome b - Cyt b) genetic variation of the only Mediterranean cephalocarid Lightiella magdalenina.FINDINGS: COI sequences provide a scenario of low...

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Sanna D, Addis A, Scarpa F, et al. First insights on the mitochondrial genetic variability of Lightiella magdalenina (Crustacea), the sole Mediterranean cephalocarid species. J Biol Res (Thessalon). 2014;21(1):5doi: 10.1186/2241-5793-21-5.
Sanna, D., Addis, A., Scarpa, F., Fabiano, F., Carcupino, M., & Francalacci, P. (2014). First insights on the mitochondrial genetic variability of Lightiella magdalenina (Crustacea), the sole Mediterranean cephalocarid species. Journal of biological research (Thessalonike, Greece), 21(1), 5. https://doi.org/10.1186/2241-5793-21-5
Sanna, Daria, et al. "First insights on the mitochondrial genetic variability of Lightiella magdalenina (Crustacea), the sole Mediterranean cephalocarid species." Journal of biological research (Thessalonike, Greece) vol. 21,1 (2014): 5. doi: https://doi.org/10.1186/2241-5793-21-5
Sanna D, Addis A, Scarpa F, Fabiano F, Carcupino M, Francalacci P. First insights on the mitochondrial genetic variability of Lightiella magdalenina (Crustacea), the sole Mediterranean cephalocarid species. J Biol Res (Thessalon). 2014 May 13;21(1):5. doi: 10.1186/2241-5793-21-5. eCollection 2014 Dec. PMID: 25984488; PMCID: PMC4376088.
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Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology

Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E.
PMID: 33964137
Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185.

Leukodystrophies are a heterogeneous group of rare inherited disorders that mostly involve the white matter of the CNS. These conditions are characterized by primary glial cell and myelin sheath pathology of variable aetiology, which causes secondary axonal degeneration, generally...

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Sferra A, Fortugno P, Motta M, et al. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021;144(10):3020-3035doi: 10.1093/brain/awab185.
Sferra, A., Fortugno, P., Motta, M., Aiello, C., Petrini, S., Ciolfi, A., Cipressa, F., Moroni, I., Leuzzi, V., Pieroni, L., Marini, F., Boespflug Tanguy, O., Eymard-Pierre, E., Danti, F. R., Compagnucci, C., Zambruno, G., Brusco, A., Santorelli, F. M., Chiapparini, L., Francalanci, P., Loizzo, A. L., Tartaglia, M., Cestra, G., & Bertini, E. (2021). Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain : a journal of neurology, 144(10), 3020-3035. https://doi.org/10.1093/brain/awab185
Sferra, Antonella, et al. "Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness." Brain : a journal of neurology vol. 144,10 (2021): 3020-3035. doi: https://doi.org/10.1093/brain/awab185
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137.
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Showing 1 to 12 of 49 entries