Corrado Angelini

Summary

Affiliation: University of Padova
Country: Italy

Publications

  1. ncbi request reprint Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia
    Carlo Pietro Trevisan
    Department of Neurosciences, University of Padua, Padua, Italy
    Eur Neurol 56:1-5. 2006
  2. ncbi request reprint Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
    C Angelini
    Department of Neurology, University of Padova, Padova, Italy
    Eur J Neurol 13:923-9. 2006
  3. ncbi request reprint Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E
    Marina Fanin
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 16:792-9. 2006
  4. ncbi request reprint Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy. Do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance?
    Marco Spinazzi
    Second Neurological Unit, Dept of Neurosciences, University of Padova Ospedale S Antonio, Via Facciolati 71, 35100, Padova, Italy
    J Neurol 254:1012-7. 2007
  5. doi request reprint The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
    C Angelini
    Department of Neurosciences, University of Padova, Padova, Italy
    Neurol Res 32:41-6. 2010
  6. pmc New treatments for myasthenia: a focus on antisense oligonucleotides
    Corrado Angelini
    IRCCS S Camillo, Via Alberoni, Venice, Italy
    Drug Des Devel Ther 7:13-7. 2013
  7. pmc Fatigue in muscular dystrophies
    Corrado Angelini
    Department of Neurosciences, University of Padova, IRCCS San Camillo, Venice, Italy
    Neuromuscul Disord 22:S214-20. 2012
  8. pmc Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies
    Simon Hauerslev
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Center, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    BMC Musculoskelet Disord 13:43. 2012
  9. doi request reprint Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
    C Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 259:952-8. 2012
  10. doi request reprint New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy
    Corrado Angelini
    University of Padova, Department of Neurosciences, Padova, Italy
    Muscle Nerve 45:831-4. 2012

Detail Information

Publications118 found, 100 shown here

  1. ncbi request reprint Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia
    Carlo Pietro Trevisan
    Department of Neurosciences, University of Padua, Padua, Italy
    Eur Neurol 56:1-5. 2006
    ..Although with heterogeneous results, studies reported to date indicate that heart alterations unrelated to cardiomyopathy are possible in FSHD...
  2. ncbi request reprint Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
    C Angelini
    Department of Neurology, University of Padova, Padova, Italy
    Eur J Neurol 13:923-9. 2006
    ..A diet high in carbohydrates, diet with medium-chain triglycerides and reduced amount of LCFA has a beneficial effect (class IV evidence) and in appropriate deficiency states carnitine and riboflavin are used (good practice points)...
  3. ncbi request reprint Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E
    Marina Fanin
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 16:792-9. 2006
    ..Muscle protein analysis would be used to screen asymptomatic patients who underwent muscle biopsy because of unexplained hyperCKemia...
  4. ncbi request reprint Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy. Do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance?
    Marco Spinazzi
    Second Neurological Unit, Dept of Neurosciences, University of Padova Ospedale S Antonio, Via Facciolati 71, 35100, Padova, Italy
    J Neurol 254:1012-7. 2007
    ..Small bowel bacterial overgrowth syndrome should be investigated as a cause of generalized malabsorption and a possible contributing factor to copper deficiency after gastric surgery, as should occult zinc ingestion...
  5. doi request reprint The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
    C Angelini
    Department of Neurosciences, University of Padova, Padova, Italy
    Neurol Res 32:41-6. 2010
    ....
  6. pmc New treatments for myasthenia: a focus on antisense oligonucleotides
    Corrado Angelini
    IRCCS S Camillo, Via Alberoni, Venice, Italy
    Drug Des Devel Ther 7:13-7. 2013
    ..Monarsen was administered in 16 patients with MG and 14 patients achieved a clinically significant response. The drug is now in a Phase II study. Further investigations are required to confirm its long-term effects...
  7. pmc Fatigue in muscular dystrophies
    Corrado Angelini
    Department of Neurosciences, University of Padova, IRCCS San Camillo, Venice, Italy
    Neuromuscul Disord 22:S214-20. 2012
    ..Furthermore, in our observation in a series of 24 cases, muscle and brain can be independently involved in DM1 patients. These observations have profound impact on the type of physical therapy to be prescribed in such patients...
  8. pmc Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies
    Simon Hauerslev
    Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Center, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark
    BMC Musculoskelet Disord 13:43. 2012
    ..Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration...
  9. doi request reprint Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
    C Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 259:952-8. 2012
    ..These results, obtained in a large case series on therapy, indicate a favourable effect of ERT therapy, even in more advanced stage of the disease...
  10. doi request reprint New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy
    Corrado Angelini
    University of Padova, Department of Neurosciences, Padova, Italy
    Muscle Nerve 45:831-4. 2012
    ..The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT)...
  11. pmc Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy
    Corrado Angelini
    IRCCS San Camillo, Venice, Italy
    Acta Myol 31:9-15. 2012
    ..The primary outcomes will be muscle strength, forced vital capacity and patient/parents satisfaction...
  12. pmc Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis
    Corrado Angelini
    Department of Neurosciences, University of Padova, Italy
    Acta Myol 30:185-7. 2011
    ..We present a diagnostic algorythm for patients with suspected myositis but presenting signs of disease progression and poor response to steroids...
  13. doi request reprint Diagnosis and management of autoimmune myasthenia gravis
    Corrado Angelini
    Department of Neurosciences, University of Padova, Padova, Italy and IRCSS S Camillo, Venice, Italy
    Clin Drug Investig 31:1-14. 2011
    ..There is a need for improved awareness among primary caregivers about this relatively rare, but treatable, disease...
  14. doi request reprint Enzyme replacement therapy for Pompe disease
    Corrado Angelini
    Department of Neurosciences, Neuromuscular Laboratory, Campus Pietro d Abano, University of Padova, Via Orus 2, 35129, Padova, Italy
    Curr Neurol Neurosci Rep 12:70-5. 2012
    ....
  15. doi request reprint Metabolic myopathies: the challenge of new treatments
    Corrado Angelini
    Department of Neurosciences, University of Padova, Italy
    Curr Opin Pharmacol 10:338-45. 2010
    ..The present review summarizes the most recent clinical achievements that have achieved the interest for an accurate and early diagnosis of these metabolic disorders...
  16. pmc State of the art in muscle glycogenoses
    C Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Acta Myol 29:339-42. 2010
    ..Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease)...
  17. pmc Dysferlinopathy course and sportive activity: clues for possible treatment
    C Angelini
    Department of Neurosciences, University of Padova, Italy
    Acta Myol 30:127-32. 2011
    ..Preventing a strenuous physical activity should be recommended in patients with high CK and diagnosed or suspected to have dysferlin deficiency...
  18. ncbi request reprint The role of corticosteroids in muscular dystrophy: a critical appraisal
    Corrado Angelini
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Padova, Italy
    Muscle Nerve 36:424-35. 2007
    ..For instance, they develop respiratory insufficiency later and have fewer cardiac symptoms. The therapeutic value of corticosteroids is limited, but these drugs represent the best treatment option currently available...
  19. pmc Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II
    Corrado Angelini
    Department of Neurosciences University of Padova Padova Italy
    Ther Adv Neurol Disord 2:143-53. 2009
    ..The use of different clinical parameters in the proposed protocol seems crucial to determine the efficacy of ERT, since not all late-onset patients respond similarly to ERT...
  20. pmc Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
    Caterina Millino
    CRIBI Biotechnology Centre, University of Padova, Padova, Italy
    BMC Med 7:14. 2009
    ..SMN has a role in neurons but its deficiency may have a direct effect on muscle tissue...
  21. ncbi request reprint Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    J Neurol Sci 264:100-5. 2008
    ..Here we suggest that myopathic changes in SBMA muscle are not only related to denervation and that muscle satellite cells may have a role in the pathogenesis of muscle damage...
  22. doi request reprint TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle
    Luisa Piva
    Neuromuscular Centre, Department of Neurosciences, University of Padova, Italy
    J Pathol 228:251-9. 2012
    ..Our findings suggest that OPN mediates inflammatory changes in DMD and that TGFB signalling has a role in the complex regulation of osteopontin expression...
  23. pmc How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
    Marina Fanin
    Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy
    Eur J Hum Genet 17:598-603. 2009
    ....
  24. ncbi request reprint Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I
    Chiara A Boito
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Virchows Arch 451:1047-55. 2007
    ....
  25. doi request reprint Pilot trial of clenbuterol in spinal and bulbar muscular atrophy
    Giorgia Querin
    Neuromuscular Center, Department of Neurosciences, University of Padova, Italy
    Neurology 80:2095-8. 2013
    ..To test the efficacy and tolerability of clenbuterol in patients with spinal and bulbar muscular atrophy (SBMA)...
  26. ncbi request reprint Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
    Chiara A Boito
    Department of Neurosciences, University of Padova, Italy
    Arch Neurol 62:1894-9. 2005
    ..Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in alpha-dystroglycan glycosylation...
  27. doi request reprint TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    Amyotroph Lateral Scler 11:240-3. 2010
    ..Our results suggest that TDP-43 pathology is probably confined to the central nervous system in ALS...
  28. ncbi request reprint The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
    Marina Fanin
    Department of Neurosciences, University of Padova, Padova, Italy
    Neuromuscul Disord 15:218-24. 2005
    ..Our results indicate that LGMD2A is one of the most frequent autosomal recessive disorders, thus finding its molecular characterization becoming increasingly important...
  29. pmc Novel sarcoglycan gene mutations in a large cohort of Italian patients
    C Boito
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy Department of Neurosciences, University of Pisa, Italy
    J Med Genet 40:e67. 2003
  30. doi request reprint Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
    Enrico Peterle
    Department of Neurosciences, University of Padova, Biomedical Campus Pietro d Abano, via Giuseppe Orus 2B, 35129 Padova, Italy
    J Neurol 260:2033-41. 2013
    ..Novel clinical features emerged from the investigation of additional patients...
  31. ncbi request reprint Expression profiling characterization of laminin alpha-2 positive MDC
    Caterina Millino
    CRIBI Biotechnology Center and Dipartimento di Biologia, Universita degli Studi di Padova, Padova, Italy
    Biochem Biophys Res Commun 350:345-51. 2006
    ..We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin alpha-2 positive MDC...
  32. ncbi request reprint Molecular and muscle pathology in a series of caveolinopathy patients
    Luigi Fulizio
    Department of Neurosciences, University of Padova, Padova, Italy
    Hum Mutat 25:82-9. 2005
    ..It is likely that caveolin-3 overexpression occurring in regenerating fibers (compared with caveolin-deficient adult fibers) may lead to an accumulation of misfolded oligomers in the Golgi and to its consequent proliferation...
  33. pmc Transcriptional and translational effects of intronic CAPN3 gene mutations
    Anna Chiara Nascimbeni
    Department of Neurosciences, University of Padova, Italy
    Hum Mutat 31:E1658-69. 2010
    ..A comprehensive approach is therefore recommended to identify and describe unclassified variants in order to offer essential data for basic and clinical geneticists...
  34. ncbi request reprint MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 17:321-9. 2007
    ..In conclusion, phenotypic and histopathological variability may underlie MYH7 gene mutation and the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations...
  35. doi request reprint Natural history of upper motor neuron-dominant ALS
    Gianni Sorarù
    Department of Neurosciences, University of Padova, Italy
    Amyotroph Lateral Scler 11:424-9. 2010
    ..Our findings suggest that there is both a different pattern of disability and longer survival in UMN-dominant ALS compared to classic ALS patients...
  36. ncbi request reprint Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient
    C Angelini
    Department of Neurology, Neuromuscular Center, University of Padua, Italy
    Muscle Nerve 21:769-75. 1998
    ..This is the first report of a patient with homozygous sarcoglycan gene mutation without overt muscle weakness in his adulthood. The spectrum of clinical phenotypes in sarcoglycanopathies is therefore wider than previously thought...
  37. pmc Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
    Luca Bello
    Department of Neurosciences, University of Padova, Padova, Italy
    Eur J Hum Genet 20:1234-9. 2012
    ..The functional impact of known and novel POMT1 mutations was predicted with a bioinformatics approach, and results were compared with previous in vitro studies of protein-o-mannosylase function...
  38. doi request reprint Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
    Anna Chiara Nascimbeni
    Neuromuscular Centre, Department of Neurosciences, University of Padova, Italy
    Neurology 70:617-26. 2008
    ..To examine at molecular, biochemical, and muscle pathology level the striking clinical heterogeneity resulting from acid alpha-glucosidase deficiency...
  39. doi request reprint Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurological Sciences, University of Padova, Italy
    Amyotroph Lateral Scler 9:287-93. 2008
    ..The extent rather than the presence of LMN signs may allow to categorize patients with motor neuron disease involving mainly UMN into distinct entities...
  40. doi request reprint Parkinson-like features in ALS with predominant upper motor neuron involvement
    Carla D'Ascenzo
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Padova, Italy
    Amyotroph Lateral Scler 13:137-43. 2012
    ..The lack of any correlation between UPDRS or BBS scores and the degree of nigrostriatal impairment on DaTSCAN seems to disprove nigrostriatal circuit involvement in these extrapyramidal-like features...
  41. doi request reprint Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2)
    Sergio Salvatori
    Department of Biomedical Sciences, University of Padova, Viale G Colombo 3, Padua, Italy
    Neurol Sci 30:185-92. 2009
    ..On the whole, these data should give a better insight on pathogenesis of DM1 and DM2...
  42. doi request reprint Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?
    Marina Fanin
    Department of Neurosciences, University of Padua, Padua, Italy
    J Neuropathol Exp Neurol 68:383-90. 2009
    ..These results emphasize the value of nNOS immunohistochemical analysis in limb-girdle muscular dystrophy and provide additional insights for future therapeutic interventions in these disorders...
  43. doi request reprint Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients
    Arianna Palmieri
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Padua, Italy
    Neurol Sci 31:735-40. 2010
    ..Rorschach test may be an useful tool to assess psychopathological features in ALS. Results of our study highlight the need of an early psychopathological diagnosis and specific psychotherapeutic treatment in patients with ALS...
  44. pmc Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan
    Stefano Gastaldello
    Department of Biomedical Sciences, University of Padova, Padova, Italy
    Am J Pathol 173:170-81. 2008
    ..These data provide important insights for the potential development of pharmacological therapies for sarcoglycanopathies...
  45. doi request reprint Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
    Marco Spinazzi
    Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Padova, Italy
    Nat Protoc 7:1235-46. 2012
    ..This protocol can be completed in 3 h...
  46. pmc Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
    Marina Fanin
    Department of Neurological and Psychiatric Sciences, University of Padua, Via Giustiniani 5, 35128 Padua, Italy
    Am J Pathol 163:1929-36. 2003
    ..We suggest that these mutations impair protein activity by affecting interdomain protein interaction, or reduce autocatalytic activity by lowering the Ca(++) sensitivity...
  47. ncbi request reprint Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    Stefano Campanaro
    CRIBI Biotechnology Centre and Dipartimento di Biologia, Universita degli Studi di Padova, Padova, Italy
    Hum Mol Genet 11:3283-98. 2002
    ..There was a major up-regulation of proteins interacting with calcium, namely S100 calcium-binding proteins and sarcolipin, a sarcoplasmic calcium regulator...
  48. doi request reprint Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders
    Marco Spinazzi
    Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Via Orus 2 35129, Padova, Italy
    Mitochondrion 11:893-904. 2011
    ..These data will be useful for quality control in both clinical and research laboratories...
  49. ncbi request reprint Co-segregation of LMNA and PMP22 gene mutations in the same family
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Via Giustiniani 5, Italy
    Neuromuscul Disord 15:858-62. 2005
    ..This study provides further insights into the relevance of lamin A/C in muscle and nerve...
  50. ncbi request reprint LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
    P Prandini
    Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy
    Neurology 63:1118-21. 2004
    ..This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A...
  51. ncbi request reprint Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation
    C Angelini
    Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy
    Acta Myol 22:90-6. 2003
    ..A residual enzyme activity is detectable in muscle, but the intracellular processing of the enzyme precursor from Golgi to the mature form in lysosomes might be blocked...
  52. doi request reprint Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants
    Cinzia Bertolin
    Laboratory of Human Genetics, Department of Biology, University of Padova, Padova, Italy
    Neurobiol Aging 35:1212.e7-1212.e10. 2014
    ..No point mutations were identified on FTD cohort. Although useful to direct genetic testing, this study results expand the current knowledge of ALS genetics. ..
  53. pmc Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
    Anna Chiara Nascimbeni
    Department of Neurosciences, University of Padova, Biomedical Campus Pietro d Abano, Padova, Italy
    Autophagy 8:1697-700. 2012
    ..In conclusion, autophagy failure plays an important role in GSDII disease progression, and the development of new drugs to restore the autophagic flux should be considered to improve ERT efficacy...
  54. ncbi request reprint Novel spastin mutations and their expression analysis in two Italian families
    Annamaria Molon
    Department of Neurosciences, University of Padua, Via Giustiniani 5, 35128 Padua, Italy
    Eur J Hum Genet 11:710-3. 2003
    ..These data suggest that varying spastin RNA levels are found in out-of-frame and missense spastin mutations and imply different mechanisms involved in the molecular pathology of SPG4 linked HSP...
  55. ncbi request reprint The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia
    Giovanni Zaninotto
    Department of Medical and Surgical Sciences, Clinica Chirurgica 3, University of Padova School of Medicine, Padova, Italy
    J Gastrointest Surg 8:997-1006. 2004
    ..If BoTox fails, CP myotomy can be offered to patients with preserved oral and tongue activity at VFS and an intact bolus propulsion ability on manometry...
  56. pmc Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease
    Marina Fanin
    Venetian Institute of Molecular Medicine, via Giuseppe Orus 2, 35129 Padova, Italy
    Am J Pathol 168:1309-20. 2006
    ..Therefore, biochemical analysis of leukocytes might be used for screening in male patients, but genetic screening is required in females...
  57. ncbi request reprint Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function
    Carlo P Trevisan
    Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy
    Audiol Neurootol 13:1-6. 2008
    ..Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population...
  58. ncbi request reprint Muscle pathology in dysferlin deficiency
    M Fanin
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neuropathol Appl Neurobiol 28:461-70. 2002
    ..Muscle inflammation might be triggered by the structurally altered membrane consequent to dysferlin defect...
  59. pmc Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
    M Fanin
    Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy
    J Med Genet 44:38-43. 2007
    ..The identification of such patients is difficult unless a functional test suggests pursuing a search for mutations...
  60. doi request reprint Right hemisphere dysfunction and emotional processing in ALS: an fMRI study
    A Palmieri
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, Italy
    J Neurol 257:1970-8. 2010
    ..Such findings may suggest extra-motor neurodegeneration involving key circuits of emotions, mostly negative, commonly involved in FTD...
  61. doi request reprint Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
    M Fanin
    Department of Neurosciences, University of Padova, via Giuseppe Orus 2, 35129 Padova, Italy
    Neurology 72:1432-5. 2009
    ..The frequency of various limb-girdle muscular dystrophy (LGMD) molecular diagnoses has previously been investigated only in cohorts of patients presenting LGMD phenotype...
  62. doi request reprint Quality of life and motor impairment in ALS: Italian validation of ALSAQ
    A Palmieri
    Department of Neurosciences, University of Padova, Padova, Italy
    Neurol Res 32:32-40. 2010
    ....
  63. pmc SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
    E Pegoraro
    Neuromuscular Center, Department of Neurosciences, University of Padova, 35128 Padova, Italy
    Neurology 76:219-26. 2011
    ..Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers...
  64. doi request reprint MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
    R Stramare
    Department of Medical Diagnostic Sciences and Special Therapies, University of Padova, Via Giustiniani 2, 35128, Padova, Italy
    Radiol Med 115:585-99. 2010
    ..The continuous discovery of new subtypes of neuromuscular disorders demands more accurate imaging analyses. We set out to establish the specific patterns of muscular involution using magnetic resonance imaging (MRI)...
  65. doi request reprint Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
    Vincenzo Romeo
    Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani, 5, 35128 Padua, Italy
    J Neurol 257:1246-55. 2010
    ..A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1...
  66. ncbi request reprint Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
    M Fanin
    Department of Neurosciences, University of Padova, Italy
    Hum Mutat 24:52-62. 2004
    ..This study reports the largest collection of LGMD2A patients so far in which both protein and gene mutations were obtained to draw genotype-protein-phenotype correlations and provide insights into a critical protein domain...
  67. doi request reprint Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients
    Vincenzo Romeo
    Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani 5, Padua, Italy
    Neurol Sci 31:757-63. 2010
    ..These abnormalities involve the left more often than the right hemisphere, the frontal lobe more than other lobes. Such abnormalities are more often cortical than subcortical...
  68. doi request reprint Emotional Lability in MND: Relationship to cognition and psychopathology and impact on caregivers
    A Palmieri
    Department of Neurosciences, University of Padova, Italy
    J Neurol Sci 278:16-20. 2009
    ..The findings suggest that those involved in the care of MND patients should be more aware of the effects of EL in the management of the disease...
  69. ncbi request reprint Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
    L Salviati
    Universita di Padova, Via Giustiniani 3, 35128 Padova, Italy
    Neurology 65:606-8. 2005
    ..CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction...
  70. ncbi request reprint Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy
    M Fanin
    Regional Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Hum Mutat 16:13-7. 2000
    ..The recurrence of specific sarcoglycan mutations in Northern Italy is probably due to a founder effect, combined with a relative genetic isolation...
  71. pmc Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
    M Fanin
    Venetian Institute of Molecular Medicine, via G Orus 2, 35129 Padova, Italy
    J Med Genet 44:609-14. 2007
    ..Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense mutations or compound heterozygote mutations) prognosis is uncertain...
  72. ncbi request reprint Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy
    E Pegoraro
    Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA, USA
    Neuromuscul Disord 9:323-5. 1999
    ..We suggest that direct gene mutation detection is more reliable than linkage or protein study in the prenatal diagnosis of sarcoglycanopathies...
  73. ncbi request reprint A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy
    E Pegoraro
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neurology 55:1128-34. 2000
    ..The reason for the variation in the severity of the clinical phenotype in congenital muscular dystrophy (CMD) with laminin alpha2 deficiency is not known...
  74. ncbi request reprint Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies
    L Vergani
    Neuromuscular Center, Department of Neurological Science, University of Padova, Padova, Italy
    Brain 122:2401-11. 1999
    ..All of these biochemical parameters were either totally or partly corrected after riboflavin therapy...
  75. ncbi request reprint Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes
    M Fanin
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neuropathol Appl Neurobiol 28:190-9. 2002
    ....
  76. ncbi request reprint LGMD2E patients risk developing dilated cardiomyopathy
    M Fanin
    Department of Neurological and Psychiatric Sciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    Neuromuscul Disord 13:303-9. 2003
    ..Careful cardiac monitoring should be carried out in beta-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy...
  77. ncbi request reprint Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1
    S Salvatori
    Department of Biomedical Sciences, University of Padova, Viale G Colombo 3, Padova, Italy
    Neurol Sci 26:235-42. 2005
    ..However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre...
  78. doi request reprint Sphingomonas paucimobilis associated with localised calf myositis
    E Pegoraro
    Department of Neurosciences, University of Padova, Padova, Italy
    J Neurol Neurosurg Psychiatry 79:1194-5. 2008
  79. ncbi request reprint Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
    M Fanin
    Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Neurology 56:660-5. 2001
    ..Mutations in the genes encoding for calpain-3 and dysferlin are responsible for limb-girdle muscular dystrophy (LGMD) type 2A and 2B, the most common forms of autosomal recessive LGMD...
  80. pmc Undiagnosed myopathy before surgery and safe anaesthesia table
    Carlo P Trevisan
    Universita di Padova, Padova, Italy
    Acta Myol 32:100-5. 2013
    ..By following this approach the presumed myopathy can be properly investigated after surgery. ..
  81. doi request reprint A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
    Costanza Lamperti
    Department of Neurology, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    Muscle Nerve 42:213-7. 2010
    ..We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use...
  82. doi request reprint Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations
    Bruno F Gavassini
    Neuromuscular Center, Department of Neurosciences, University of Padova, Padova 35128, Italy
    Muscle Nerve 44:703-9. 2011
    ..In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations...
  83. doi request reprint Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2
    Valerio Pisani
    Department of Neurosciences, Universita di Roma Tor Vergata, and IRCCS Fondazione Santa Lucia, Via Montpellier 1, I 00133, Rome, Italy
    Muscle Nerve 38:1405-11. 2008
    ..Thus, morphometric and fiber type-based histological analysis of muscle biopsies may help differentiate between DM1 and DM2 and guide molecular analysis...
  84. doi request reprint A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
    Marco Spinazzi
    Neurosciences Department, University of Padova, Italy
    Hum Mol Genet 17:3291-302. 2008
    ....
  85. pmc Mitochondrial disorders of the nuclear genome
    C Angelini
    Department of Neurosciences, University of Padova, Italy
    Acta Myol 28:16-23. 2009
    ..These latter disorders have mendelian inheritance...
  86. doi request reprint Epidemiology of ALS in Padova district, Italy, from 1992 to 2005
    V Cima
    Department of Neurosciences, University of Padova, Padova, Italy
    Eur J Neurol 16:920-4. 2009
    ..To analyze ALS incidence over time we conducted a retrospective incidence study in the Padova district of Italy (1992 to 2005). We had previously conducted a survey in the same area in the years 1980-1991...
  87. doi request reprint Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
    Monica Del Rizzo
    Division of Metabolic Diseases, Department of Paediatrics, University Hospital Padua, Via Giustiniani 3, 35128 Padua, Italy
    J Inherit Metab Dis 33:S389-93. 2010
    ..A muscle biopsy performed at 18 months after the start of therapy, showed only a low degree of muscle involvement. To our knowledge, this is the longest ERT treatment follow-up in a symptomatic neonatal patient with Pompe disease...
  88. pmc Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
    Elena Pegoraro
    Neuromuscular Center, Department of Neurological and Psychiatric Sciences, University of Padova, Padova, Italy
    Am J Pathol 160:2135-43. 2002
    ..We conclude that secondary integrin alpha 7 deficiency is rather common in muscular dystrophy/myopathy of unknown etiology, emphasizing the multiple mechanisms that may modulate integrin function and stability...
  89. ncbi request reprint A pilot trial with clenbuterol in amyotrophic lateral sclerosis
    Gianni Sorarù
    Department of Neurosciences, Neurology Unit, Piove di Sacco Hospital, Padova, Italy
    Amyotroph Lateral Scler 7:246-8. 2006
  90. doi request reprint Subacute sensory ataxia and optic neuropathy with thiamine deficiency
    Marco Spinazzi
    Department of Neurosciences, University of Padova, Clinica Neurologica II, Ospedale S Antonio, Padova, Italy
    Nat Rev Neurol 6:288-93. 2010
    ..10 years before presentation he had received a diagnosis of megaloblastic anemia, with no neurological involvement, as a result of vitamin B(12) and folate deficiency, for which he was receiving regular supplements...
  91. doi request reprint Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency
    Angelica Anichini
    Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy
    Neurol Res 33:24-32. 2011
    ..The aim of this study was to investigate a large series of patients in order to provide genotype-phenotype correlations...
  92. doi request reprint Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells
    E Loro
    Department of Neurosciences, University of Padova, Padova, Italy
    Cell Death Differ 17:1315-24. 2010
    ..We thus propose that the muscle wasting typical in DM1 is due to impairment of muscle mass maintenance-regeneration, through premature apoptotic-autophagic activation, rather than altered myogenesis...
  93. ncbi request reprint Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms
    C Angelini
    Department of Neurosciences, University of Padua, Italy
    Acta Myol 23:130-6. 2004
    ....
  94. ncbi request reprint Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
    Luisa Toffolatti
    Dipartimento di Biologia, Universita di Padova, Padova, 35121, Italy
    Genomics 80:523-30. 2002
    ..The correlation among recombination rate, deletion frequency, and percentage of repetitive elements is discussed...
  95. ncbi request reprint MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells
    L Vergani
    Department of Neurology, University of Padova, Italy
    Biochem Biophys Res Commun 210:880-8. 1995
    ....
  96. pmc The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy
    D M Bonifati
    Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128 Padova, Italy
    J Neurol Neurosurg Psychiatry 77:1177-9. 2006
    ..Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable...
  97. doi request reprint Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR
    S Martignago
    Department of Neurosciences, University of Padova, Padova, Italy
    Neuropathol Appl Neurobiol 35:103-10. 2009
    ..While the immunopathogenesis of seropositive MG is well known, there is a lack of pathological studies in anti-MuSK antibody-positive (MuSK+) MG...
  98. ncbi request reprint Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study
    M C Mantovan
    Department of Neurology, Venice Hospital, University of Padua, Padua, Italy
    Eur J Neurol 13:827-35. 2006
    ..Cognitive impairment, mood disorders and motor deficits in FRDA patients may be the result of the cumulative damage caused by frataxin deficiency not only in the cerebellum and spinal cord but also in other brain areas...
  99. pmc A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
    Daniela Rossi
    Molecular Medicine Section, Department of Neuroscience, University of Siena, Siena 53100, Italy
    J Med Genet 44:e67. 2007
    ....
  100. ncbi request reprint Childhood dermatomyositis associated with intracranial tumor and liver cysts
    Nina Barisic
    Department of Pediatrics, Clinical Medical Center Zagreb, Rebro, Kispaticeva 12, Zagreb, Croatia
    Eur J Paediatr Neurol 11:76-80. 2007
    ..We speculate that this association is not coincidental, but mediated by an autoimmune attack against an antigen that is shared among the target tissues...