Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene (388 views)
Muscle Nerve (ISSN: 0148-639x), 2015; 51(4): 604-608.
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Paper type: Journal Article,
Impact factor: 2.713, 5-year impact factor: 2.474
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84925460051&partnerID=40&md5=e6dd7ea88fd0963058d32577cbf3dfac
Keywords: Cardiomyopathy, Ftd, Laminopathy, Lgmd, Lmna, Creatine Kinase, Prednisone, Lmna Protein, Human, Achilles Tendon, Adult, Article, Atrioventricular Conduction, Autosomal Dominant Inheritance, Biceps Brachii Muscle, Bradycardia, Case Report, Computer Assisted Tomography, Congestive Cardiomyopathy, Exon, Fatigue, Female, Fiber Type Disproportion, Flexor Muscle, Gait Disorder, Gene Mutation, Hamstring, Heart Muscle Conduction Disturbance, Heterozygosity, Histopathology, Human Tissue, Hyperlordosis, Iliopsoas Muscle, Limb Girdle Muscular Dystrophy, Middle Aged, Muscle Atrophy, Muscle Biopsy, Muscle Cell, Muscle Disease, Muscle Rigidity, Muscle Strength, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Pacemaker, Phenotype, Polymyositis, Priority Journal, Sinus Bradycardia, Tendon Contracture, Tendon Reflex, Genetic Predisposition, Myopathies, Structural, Congenital, Pedigree, Skeletal Muscle, Genetic Predisposition To Disease, Lamin Type A, Muscle Fibers,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy
Neuromuscular and Molecular Medicine Unit, Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy
Institute of Biostructure and Bioimaging (IBB) of the italian National Research Council, Naples, Italy
References:
Not available.
Muscle Nerve (ISSN: 0148-639x), 2015; 51(4): 604-608.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 2.713, 5-year impact factor: 2.474
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84925460051&partnerID=40&md5=e6dd7ea88fd0963058d32577cbf3dfac
Keywords: Cardiomyopathy, Ftd, Laminopathy, Lgmd, Lmna, Creatine Kinase, Prednisone, Lmna Protein, Human, Achilles Tendon, Adult, Article, Atrioventricular Conduction, Autosomal Dominant Inheritance, Biceps Brachii Muscle, Bradycardia, Case Report, Computer Assisted Tomography, Congestive Cardiomyopathy, Exon, Fatigue, Female, Fiber Type Disproportion, Flexor Muscle, Gait Disorder, Gene Mutation, Hamstring, Heart Muscle Conduction Disturbance, Heterozygosity, Histopathology, Human Tissue, Hyperlordosis, Iliopsoas Muscle, Limb Girdle Muscular Dystrophy, Middle Aged, Muscle Atrophy, Muscle Biopsy, Muscle Cell, Muscle Disease, Muscle Rigidity, Muscle Strength, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Pacemaker, Phenotype, Polymyositis, Priority Journal, Sinus Bradycardia, Tendon Contracture, Tendon Reflex, Genetic Predisposition, Myopathies, Structural, Congenital, Pedigree, Skeletal Muscle, Genetic Predisposition To Disease, Lamin Type A, Muscle Fibers,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy
Neuromuscular and Molecular Medicine Unit, Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy
Institute of Biostructure and Bioimaging (IBB) of the italian National Research Council, Naples, Italy
References:
Not available.
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
Introduction: Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. Methods: We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene. Results: We identified heterozygous mutations (c.80C> T; pT27I) in the LMNA gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy. Interestingly, muscle biopsies showed changes consistent with fiber type disproportion (FTD). Conclusions: Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with LMNA mutations. Our report further supports this association and suggests inclusion of molecular testing for LMNA in the differential diagnosis of myopathies with FTD due to the risk for life threatening events. © 2014 Wiley Periodicals, Inc..
Introduction: Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. Methods: We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene. Results: We identified heterozygous mutations (c.80C> T; pT27I) in the LMNA gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy. Interestingly, muscle biopsies showed changes consistent with fiber type disproportion (FTD). Conclusions: Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with LMNA mutations. Our report further supports this association and suggests inclusion of molecular testing for LMNA in the differential diagnosis of myopathies with FTD due to the risk for life threatening events. © 2014 Wiley Periodicals, Inc..
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
| ▼ Targeting Of Protein-Protein Interactions For Therapeutic Purposes |
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
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Impact Factor: 2.997
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* The "gray Zone" For The Heart To Mediastinum Mibg Uptake Ratio (369 views)
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Impact Factor: 1.5
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Pellegrino T, Petretta M, Paolillo S, Boemio A, Carotenuto R, Petretta MP, Di Nuzzo C, Perrone-filardi P, Cuocolo A
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Impact Factor: 5.217
View Export to BibTeX Export to EndNote
Ferraro F, Marano E, Petruzzi J, Tedeschi E, Santulli L, Elefante A
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Impact Factor: 1.47
View Export to BibTeX Export to EndNote
Cella L, Conson M, Caterino M, De Rosa N, Liuzzi R, Picardi M, Grimaldi F, Solla R, Farella A, Salvatore M, Pacelli R
* Thyroid V30 predicts radiation-induced hypothyroidism in patients treated with sequential chemo-radiotherapy for Hodgkin's lymphoma (584 views) (PDF 250 views)
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Impact Factor: 4.524
View Export to BibTeX Export to EndNote
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Impact Factor: 4.223
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Cella L, Liuzzi R, Conson M, Torre G, Caterino M, De Rosa N, Picardi M, Camera L, Solla R, Farella A, Salvatore M, Pacelli R
* Dosimetric predictors of asymptomatic heart valvular dysfunction following mediastinal irradiation for Hodgkin's lymphoma (595 views)
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Impact Factor: 5.58
View Export to BibTeX Export to EndNote
Imbriaco M, Messalli G, Avitabile G, Cuocolo A, Maurea S, Soscia F, Pisani A
* Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression (340 views)
Br J Radiol (ISSN: 0007-1285, 1748-880xelectronic, 0007-1285linking), 2010 Dec; 83(996): e249-e249.
Impact Factor: 2.062
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Strianese D, Tranfa F, Finelli M, De Renzo A, Staibano S, Schiemer R, Cardone D, Pacelli R, Perna F, Mascolo M, De Rosa G, Bonavolonta G
* Hepatitis C virus infection in ocular adnexal lymphomas (456 views)
Arch Ophthalmol (ISSN: 1538-3601, 0003-9950), 2010 Oct; 128(10): 1295-1299.
Impact Factor: 3.516
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Del Vecchio S, Zannetti A, Fonti R, Iommelli F, Pizzuti LM, Lettieri A, Salvatore M
* PET/CT in cancer research: From preclinical to clinical applications (725 views)
Contrast Media Mol Imaging (ISSN: 1555-4309, 1555-4309linking), 2010 Jul; 5(4): 190-200.
Impact Factor: 4.02
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Lanzillo R, Orefice G, Quarantelli M, Rinaldi C, Prinster A, Ventrella G, Spitaleri D, Lus G, Vacca G, Carotenuto B, Salvatore E, Brunetti A, Tedeschi G, Brescia Morra V
* Atorvastatin combined to interferon to verify the efficacy (ACTIVE) in relapsing-remitting active multiple sclerosis patients: A longitudinal controlled trial of combination therapy (656 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2010 Apr; 16(4): 450-454.
Impact Factor: 4.23
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Storto G, De Renzo A, Pellegrino T, Perna F, De Falco T, Erra P, Nardelli A, Speranza A, Klain M, Rotoli B, Pace L
* Assessment of Metabolic Response to Radioimmunotherapy with (90)Y-Ibritumomab Tiuxetan in Patients with Relapsed or Refractory B-Cell Non-Hodgkin Lymphoma (501 views)
Radiology (ISSN: 0033-8419, 1527-1315, 0033-8419linking), 2010 Jan; 254(1): 245-252.
Impact Factor: 6.069
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Storto G, Nicolai E, Petretta M, Spinelli L, Acampa W, Evangelista L, Daniele S, Trimarco B, Cuocolo A
* Cardiac performance during exercise in hypertensive patients without ventricular hypertrophy (687 views)
Eur J Clin Invest (ISSN: 0014-2972, 1365-2362, 0014-2972linking), 2009 Sep; 39(8): 664-670.
Impact Factor: 2.643
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Spinelli L, Nicolai E, Acampa W, Imbriaco M, Pisani A, Rao MA, Scopacasa F, Cianciaruso B, De Luca N, Cuocolo A
* Cardiac performance during exercise in patients with Fabry's disease (453 views)
Eur J Clin Invest (ISSN: 0014-2972, 1365-2362, 0014-2972linking), 2008 Dec; 38(12): 910-917.
Impact Factor: 2.784
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Gallotta G, Palmieri V, Piedimonte V, Rendina D, De Bonis S, Russo V, Celentano A, Di Minno M, Postiglione A, Di Minno G
* Increased troponin I predicts in-hospital occurrence of hemodynamic instability in patients with sub-massive or non-massive pulmonary embolism independent to clinical, echocardiographic and laboratory information (629 views)
Int J Cardiol (ISSN: 0167-5273, 1874-1754electronic, 0167-5273linking), 2008 Mar 14; 124(3): 351-357.
Impact Factor: 3.121
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Migliore T, Parrella LS, Caputi A, Silvestri N, Romano R, Pace L, Imbriaco M, Losi MA, Betocchi S
* Pathogenesis of hypertrophic cardiomyopathy. Impact of growth factors on left ventricular anatomy (462 views)
Minerva Cardioangiol (ISSN: 0026-4725), 2008 Feb; 56(1): 13-20.
Impact Factor: 0.481
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Ciampi Q, Betocchi S, Losi MA, Ferro A, Cuocolo A, Lombardi R, Villari B, Chiariello M
* Abnormal blood-pressure response to exercise and oxygen consumption in patients with hypertrophic cardiomyopathy (549 views)
J Nucl Cardiol (ISSN: 1532-6551, 1071-3581, 1532-6551electronic), 2007 Nov; 14(6): 869-875.
Impact Factor: 2.359
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De Renzo A, Perna F, Persico M, Mainolfi C, Pace L
* 18F-fluorodeoxyglucose positron emission tomography/computed tomography in the evaluation of early response in a primary hepatic lymphoma (297 views)
Br J Haematol (ISSN: 0007-1048, 0007-1048linking, 1365-2141electronic), 2006 Jun; 133(6): 580-580.
Impact Factor: 4.498
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Santomauro M, Pace L, Duilio C, Ottaviano L, Borrelli A, Ferro A, Monteforte N, Cuocolo A, Salvatore M, Chiariello M
* Left ventricular pacing in patients with heart failure: Evaluation study with Fourier analysis of radionuclide ventriculography (411 views)
Ital Heart J (ISSN: 1129-471x), 2004 Dec; 5(12): 906-911.
Impact Factor: 6.023
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Ciampi Q, Betocchi S, Violante A, Lombardi R, Losi M, Storto G, Manganelli F, Tocchetti C, Aversa M, Pezzella E, Finizio F, Cuocolo A, Chiariello M
* Hemodynamic effects of isometric exercise in hypertrophic cardiomyopathy: Comparison with normal subjects (597 views)
J Nucl Cardiol (ISSN: 1071-3581, 1532-6551, 1532-6551electronic), 2003 Mar; 10(2): 154-160.
Impact Factor: 1.629
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Colao A, Marzullo P, Cuocolo A, Spinelli L, Pivonello R, Bonaduce D, Salvatore M, Lombardi G
* Reversal of acromegalic cardiomyopathy in young but not in middle-aged patients after 12 months of treatment with the depot long-acting somatostatin analogue octreotide (757 views)
Clin Endocrinol (ISSN: 0300-0664, 1365-2265, 1365-2265electronic), 2003 Feb; 58(2): 169-176.
Impact Factor: 2.767
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Petretta M, Vicario ML, Spinelli L, Ferro A, Cuocolo A, Condorelli M, Bonaduce D
* Combined effect of the force-frequency and length-tension mechanisms on left ventricular function in patients with dilated cardiomyopathy (358 views)
Eur J Heart Fail European Journal Of Heart Failure (ISSN: 1388-9842), 2002 Dec; 4(6): 727-735.
Impact Factor: 2.134
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Acampa W, Petretta M, Cuocolo A
* Nuclear medicine procedures in cardiovascular diseases: An evidence based approach (541 views)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 2002 Dec; 46(4): 323-330.
Impact Factor: 1.903
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Ciampi Q, Betocchi S, Lombardi R, Losi M, Manganelli F, Storto G, Aversa M, Miranda M, Cuocolo A, Tocchetti CG, Chiariello M
* The diastolic function in hypertrophic cardiomyopathy (303 views)
Cardiologia, 2002 Nov 5; 33(8): 741-746.
Impact Factor: 0
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Ciampi Q, Betocchi S, Lombardi R, Manganelli F, Storto G, Losi MA, Pezzella E, Finizio F, Cuocolo A, Chiariello M
* Hemodynamic determinants of exercise-induced abnormal blood pressure response in hypertrophic cardiomyopathy (403 views)
Journal Of The American College Of Cardiology (ISSN: 0735-1097), 2002 Jul 17; 40(2): 278-284.
Impact Factor: 6.278
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Colao A, Spinelli L, Cuocolo A, Spiezia S, Pivonello R, Di Somma C, Bonaduce D, Salvatore M, Lombardi G
* Cardiovascular consequences of early-onset growth hormone excess (490 views)
J Clin Endocrinol Metab (ISSN: 0021-972x), 2002 Jul; 87(7): 3097-3104.
Impact Factor: 5.199
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Manganelli F, Betocchi S, Ciampi Q, Storto G, Losi MA, Violante A, Briguori C, Tocchetti CG, Lombardi R, Cuocolo A, Chiariello M
* Myopia and IOP (506 views)
Ann Ottalmol Clin Ocul, 2002 Jun 15; 115(10): 1053-1058.
Impact Factor: 0
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Colao A, Cuocolo A, Marzullo P, Nicolai E, Ferone D, Morte A, Pivonello R, Salvatore M, Lombardi G
* Is the acromegalic cardiomyopathy reversible? Effect of 5-year normalization of growth hormone and insulin-like growth factor I levels on cardiac performance (466 views)
J Clin Endocrinol Metab (ISSN: 0021-972x), 2001 Apr; 86(4): 1551-1557.
Impact Factor: 5.16
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Clampi Q, Losi M, Violante A, Manganelli F, Pezzella E, Storto G, Tocchetti C, Finizio F, Lombardi R, Briguori C, Cuocolo A, Betocchi S
Effects of isometric exercise in obstructive hypertrophic cardiomyopathy (301 views)
Circulationcirculation (ISSN: 0009-7322), 1999 Nov 2; 100(18SUPPL.): N/D-N/D.
Impact Factor: 9.903
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Manganelli F, Betocchi S, Ciampi Q, Losi MA, Tocchetti GC, Cuocolo A, Storto G, Violante A, Lombardi R, Chiariello M
Haemodynamic determinants of syncope in hypertrophic cardiomyopathy (290 views)
European Heart Journal (ISSN: 0195-668x), 1999 Sep; 20(ABSTR.SUPPL.): N/D-N/D.
Impact Factor: 3.21
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Lombardi G, Colao A, Cuocolo A, Longobardi S, Di Somma C, Orio F, Merola B, Nicolai E, Salvatore M
Cardiological aspects of growth hormone and insulin-like growth factor- (1034 views)
J Pediatr Endocrinol Metab (ISSN: 0334-018x), 1997 Nov; 10(6): 553-560.
Impact Factor: 0.481
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Nappi A, Cuocolo A, Nicolai E, Imbriaco M, Pace L, Salvatore M
Ambulatory monitoring of left ventricular function with a radionuclide detector system (369 views)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 1992; 84(1-2): 132-139.
Impact Factor: 0.967
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Manna R, Salvatore M, Pantoli D, Vecchio FM, Greco AV, Carosella L, Schiavino D, Ghirlanda G
Malignant histiocytosis: Report of three cases (410 views)
Br J Clin Pract (ISSN: 0007-0947), 1988 Feb; 42(2): 82-86.
Impact Factor: 0.351
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38 Records (33 excluding Abstracts).
Total impact factor: 140.182 (119.009 excluding Abstracts).
Total 5 year impact factor: 133.819 (103.654 excluding Abstracts).
Total impact factor: 140.182 (119.009 excluding Abstracts).
Total 5 year impact factor: 133.819 (103.654 excluding Abstracts).
388 views. Last view on Sunday 25 August 2024, 23:08:29
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