Lucio Santoro

Summary

Affiliation: Federico II University
Country: Italy

Publications

  1. pmc A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
    L Santoro
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    J Neurol Neurosurg Psychiatry 75:262-5. 2004
  2. pmc Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population
    L Santoro
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, and Department of Neurology, Hospital Maggiore, Lodi, Italy
    J Neurol Neurosurg Psychiatry 77:626-9. 2006
  3. ncbi request reprint A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy
    L Santoro
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Napoli, Italia
    J Neurol 253:869-74. 2006
  4. doi request reprint Perioral skin biopsy to study skeletal muscle protein expression
    Lucio Santoro
    Department of Neurological Sciences, University Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
    Muscle Nerve 41:392-8. 2010
  5. ncbi request reprint Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
    L Santoro
    Department of Neurological Sciences, Servizio di Neurofisiopatologia, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy
    Neuromuscul Disord 12:399-404. 2002
  6. doi request reprint A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation
    Lucio Santoro
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy
    Cephalalgia 31:808-19. 2011
  7. doi request reprint Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease
    Anna Perretti
    Department of Neurological Sciences, Federico II University of Naples, Italy
    Clin Neurophysiol 122:546-9. 2011
  8. doi request reprint Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
    Raffaele Dubbioso
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy
    J Neurol 259:833-7. 2012
  9. ncbi request reprint Gender differences in non-motor symptoms in early, drug naïve Parkinson's disease
    Marina Picillo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    J Neurol 260:2849-55. 2013
  10. doi request reprint Electrophysiological characterisation in hereditary spastic paraplegia type 5
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    Clin Neurophysiol 122:819-22. 2011

Detail Information

Publications60

  1. pmc A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease
    L Santoro
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    J Neurol Neurosurg Psychiatry 75:262-5. 2004
    ..To report a new mutation in the MPZ gene which encodes myelin protein zero (P0), associated with an axonal form of Charcot-Marie-Tooth disease (CMT)...
  2. pmc Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population
    L Santoro
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, and Department of Neurology, Hospital Maggiore, Lodi, Italy
    J Neurol Neurosurg Psychiatry 77:626-9. 2006
    ..To assess the prevalence of peripheral neuropathy (PN) and its correlation with cryoglobulinemia (CG) in an unselected, untreated referral hepatitis C virus (HCV) population...
  3. ncbi request reprint A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy
    L Santoro
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131, Napoli, Italia
    J Neurol 253:869-74. 2006
    ..Recent positional cloning studies have linked the disease to four different chromosomal loci. Mutations in POLG1 are a frequent cause of this disorder...
  4. doi request reprint Perioral skin biopsy to study skeletal muscle protein expression
    Lucio Santoro
    Department of Neurological Sciences, University Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
    Muscle Nerve 41:392-8. 2010
    ..We propose this minimally invasive technique to follow-up the response to genetic or conventional therapies in muscular dystrophies and to confirm the diagnosis in some special clinical conditions...
  5. ncbi request reprint Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
    L Santoro
    Department of Neurological Sciences, Servizio di Neurofisiopatologia, University of Naples Federico II, Via Sergio Pansini 5, 80131, Naples, Italy
    Neuromuscul Disord 12:399-404. 2002
    ..Charcot-Marie-Tooth disease type 2C is clinically and genetically different from Charcot-Marie-Tooth disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII...
  6. doi request reprint A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation
    Lucio Santoro
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy
    Cephalalgia 31:808-19. 2011
    ..To describe a new FHM kindred, and to analyse the functional consequences of the disease-associated ATP1A2 p.G301R mutation in human cellular models grown at 37°C...
  7. doi request reprint Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease
    Anna Perretti
    Department of Neurological Sciences, Federico II University of Naples, Italy
    Clin Neurophysiol 122:546-9. 2011
    ..Aim of the present study was to evaluate central motor conduction in patients with EOPD, negative for parkin mutations to establish if prolonged CMCT is specific of PARK2 or it may be present in other EOPD patients...
  8. doi request reprint Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
    Raffaele Dubbioso
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy
    J Neurol 259:833-7. 2012
    ..Our results might be consistent with the toxic gain-of-function theory in the pathogenesis of OPMD and hint at a possible direct role of PABPN1 in the CNS also in heterozygote patients...
  9. ncbi request reprint Gender differences in non-motor symptoms in early, drug naïve Parkinson's disease
    Marina Picillo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    J Neurol 260:2849-55. 2013
    ..Comparison with healthy controls showed that some NMS classically present in premotor and early stage of disease (i.e., acting out during dreams, taste/smelling difficulties) are more frequent in male than in female patients. ..
  10. doi request reprint Electrophysiological characterisation in hereditary spastic paraplegia type 5
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    Clin Neurophysiol 122:819-22. 2011
    ..To assess in SPG5 hereditary spastic paraparesis (HSP) the involvement of the central (CNS) and the peripheral (PNS) nervous system by a multimodal electrophysiological approach...
  11. pmc Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
    Lucio Santoro
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Neurogenetics 12:33-9. 2011
    ....
  12. doi request reprint Case of acute motor conduction block neuropathy (AMCBN)
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131 Naples, Italy
    Muscle Nerve 39:224-6. 2009
    ..The 6 months of disease duration and the electrophysiological follow-up, which never showed axonal degeneration until complete clinical recovery, raise the issue of the relationship between AMCBN and acute motor axonal neuropathy (AMAN)...
  13. doi request reprint Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Italy
    Arch Neurol 68:504-7. 2011
    ..To evaluate postganglionic autonomic and somatic nerve fiber involvement in a patient with chronic autoimmune autonomic ganglionopathy...
  14. pmc Functional involvement of central cholinergic circuits and visual hallucinations in Parkinson's disease
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    Brain 132:2350-5. 2009
    ..A follow-up study of our patients is required to verify whether SAI abnormalities can predict a future severe cognitive decline. Moreover, SAI can also be very useful to follow-up the efficacy of anti-cholinesterase therapies...
  15. ncbi request reprint Postganglionic sudomotor denervation in patients with multiple system atrophy
    Vincenzo Provitera
    From the Neurology Division V P, M N, G C, A s, B L, Salvatore Maugeri Foundation, Medical Center of Telese Terme BN the Department of Neurosciences and Reproductive and Odontostomatologic Sciences F M, R I, A D R, G D M, L S, University Federico II of Naples, Italy the Department of Neurology M M S, University of Minnesota, Minneapolis and the Center for Neurodegenerative Diseases M T P, University of Salerno, Italy
    Neurology 82:2223-9. 2014
    ..To evaluate postganglionic autonomic involvement in multiple system atrophy (MSA)...
  16. ncbi request reprint Is serum uric acid related to non-motor symptoms in de-novo Parkinson's disease patients?
    Marcello Moccia
    Department of Neuroscience, Reproductive Science and Odontostomatology, Federico II University, Naples, Italy
    Parkinsonism Relat Disord 20:772-5. 2014
    ..The aim of the present study is to evaluate the relationship between serum UA and non-motor symptoms (NMS) in de novo PD...
  17. doi request reprint Predictors of recovery of responsiveness in prolonged anoxic vegetative state
    Anna Estraneo
    Salvatore Maugeri Foundation, Federico II University, Naples, Italy
    Neurology 80:464-70. 2013
    ..The present 2-year prospective clinical study aimed to identify prognostic markers, recorded in the chronic phase, that might be useful for predicting recovery of responsiveness in a cohort of postanoxic VS patients...
  18. ncbi request reprint Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy
    Muscle Nerve 36:816-20. 2007
    ....
  19. doi request reprint Electrophysiological comparison between males and females in HNPP
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy
    Neurol Sci 34:1429-32. 2013
    ..We believe that the higher disease expression may increase the chance to detect the disease in males and, thereby, to underestimate the HNPP diagnosis in females. ..
  20. ncbi request reprint Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
    Giovanni Coppola
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy
    J Neurol 252:897-900. 2005
    ..The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded...
  21. doi request reprint Autonomic nervous system involvement in a new CMT2B family
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    J Peripher Nerv Syst 17:361-4. 2012
    ..Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease...
  22. ncbi request reprint Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131 Naples, Italy
    Clin Neurophysiol 119:351-5. 2008
    ..Aim of our study was to test the cortical cholinergic innervation in CADASIL by short latency afferent inhibition (SAI) technique...
  23. ncbi request reprint Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
    Fiore Manganelli
    Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy
    J Neurol 261:804-8. 2014
    ....
  24. doi request reprint Somatosensory temporal discrimination threshold is increased in patients with cerebellar atrophy
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5 80131, Naples, Italy
    Cerebellum 12:456-9. 2013
    ..These findings suggest that the cerebellum plays a role in modulating the somatosensory temporal discrimination threshold and confirm the role of cerebellum in the processing of time in the millisecond range...
  25. ncbi request reprint Link between non-motor symptoms and cognitive dysfunctions in de novo, drug-naive PD patients
    Roberto Erro
    Department of Neurological Science, University of Naples Federico II, Naples, Italy
    J Neurol 259:1808-13. 2012
    ..Given the correlation between sleep disturbances and cognitive impairment, it is possible that sleep symptoms in PD patients might be considered as an early marker of dementia...
  26. ncbi request reprint Nine-year case history of monofocal motor neuropathy
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini 5, Naples, Italy
    Muscle Nerve 38:927-9. 2008
    ..A 3-year follow-up did not show any clinical or electrophysiological involvement of other nerves. A monofocal motor neuropathy, as a variant of multifocal motor neuropathy, was diagnosed...
  27. doi request reprint Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?
    Vincenzo Donadio
    Department of Neurological Sciences, University of Bologna, Via U Foscolo 7, Bologna, Italy
    Mov Disord 23:885-8. 2008
    ....
  28. ncbi request reprint Teaching video neuroImages: Clonus of the lower jaw: an old sign that comes back
    Rosa Iodice
    From the Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Italy
    Neurology 82:e96. 2014
    ..1) However, although the first description of clonus of the lower jaw in ALS dates back to 1886,(2) this sign is not frequently noticed in clinical practice. ..
  29. ncbi request reprint Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations
    Anna De Rosa
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Pansini 5, 80131 Napoli, Italy
    J Neurol 253:275-9. 2006
    ..The findings demonstrate corticospinal dysfunction in these patients and suggest that the extent of central nervous system involvement in parkin disease may be wider that hitherto supposed...
  30. doi request reprint A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
    Fiore Manganelli
    Department of Neurological Sciences, University Federico II of Naples, Naples, Italy
    J Peripher Nerv Syst 17:351-5. 2012
    ..Notably, electrophysiological study in this family allowed to reveal hidden positive family history and assess a dominant inheritance pattern, revealing subclinical neuropathy in asymptomatic mutation carriers...
  31. ncbi request reprint Skin sympathetic adrenergic innervation: an immunofluorescence confocal study
    Vincenzo Donadio
    Department of Neurological Sciences, University of Bologna, Bologna, Naples, Italy
    Ann Neurol 59:376-81. 2006
    ..The aim of this study was to characterize sympathetic adrenergic innervation of the skin in healthy subjects using dopamine beta hydroxylase (DbetaH) as a specific marker for noradrenergic fibers...
  32. ncbi request reprint Atypical clinical and radiological presentation of cryptococcal choroid plexitis in an immunocompetent woman
    Raffaele Dubbioso
    Department of Neurological Sciences, Federico II University of Naples, Italy
    J Neurol Sci 334:180-2. 2013
    ..Our case also suggests a potential role of FDG-PET in the monitoring antifungal therapeutic efficacy. ..
  33. doi request reprint Ross syndrome: A lesson from a monozygotic twin pair
    Maria Nolano
    From Salvatore Maugeri Foundation IRCCS Medical Center of Telese Terme BN M N, V P, A Stancanelli, A Saltalamacchia, G C, Telese Terme Department of Neurological Sciences V D, University of Bologna, Bologna and Department of Neurological Sciences L S, University of Naples Federico II, Naples, Italy
    Neurology 80:417-8. 2013
    ..Familial cases have not been reported...
  34. ncbi request reprint Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
    Elena Salvatore
    Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
    Mov Disord 21:872-5. 2006
    ..Dopamine transporter reduction was symmetrical and uniform in caudate and putamen and it correlated with the clinical severity of ataxia...
  35. ncbi request reprint Modifications of brain tissue volumes in facioscapulohumeral dystrophy
    Mario Quarantelli
    Biostructure and Bioimaging Institute, National Council for Research, Naples, Italy
    Neuroimage 32:1237-42. 2006
    ..10(-3)). To the best of our knowledge, this is the first study to demonstrate a reduction in GM volume in FSHD. We hypothesize that localized GM loss in FSHD is the consequence of a selective involvement of specific CNS structures...
  36. ncbi request reprint Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype
    C Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 63:2173-5. 2004
    ..A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown...
  37. ncbi request reprint Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease
    L Santoro
    Department of Neurological Sciences, Servizio di Neurofisiopatologia, Universita Federico II di Napoli, Via Sergio Pansini 5, 80131, Napoli, Italy
    Clin Neurophysiol 111:1023-30. 2000
    ..To verify if GAA expansion size could account for the severity of the central nervous system involvement in Friedreich's ataxia (FA)...
  38. ncbi request reprint Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families
    A Filla
    Clinica Neurologica, Universita Federico II, Napoli, Italy
    J Neurol 246:467-71. 1999
    ..Among the remaining 21 families, three carried the SCA1 and one the SCA6 mutation. This study suggests that SCA2 is the prevalent mutation in southern Italy...
  39. ncbi request reprint A novel mutation in SACS gene in a family from southern Italy
    C Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 62:100-2. 2004
    ..The phenotype is similar to previously described patients with ARSACS...
  40. ncbi request reprint Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation
    A Perretti
    Department of Neurological Sciences, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
    J Neurol Sci 192:35-40. 2001
    ..The CSP threshold was increased in seven patients, and CSP was absent in one. These results suggest an intracortical presynaptic motor dysfunction in WD...
  41. ncbi request reprint Post-exercise facilitation and depression of motor evoked potentials to transcranial magnetic stimulation: a study in multiple sclerosis
    A Perretti
    Department of Neurological Sciences, Servizio di Neurofisiopatologia, University of Naples Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
    Clin Neurophysiol 115:2128-33. 2004
    ....
  42. ncbi request reprint Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis
    E Del Giudice
    Department of Pediatrics, Child Neuropsychiatry Unit, Federico II University, Naples, Italy
    Acta Paediatr 92:398-401. 2003
    ..Two novel mutations in the PRF1 gene were concomitantly present in the patient. The first caused an amino acid change, while the second introduced a stop codon in the sequence which resulted in a truncated protein...
  43. ncbi request reprint The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
    Valentina Scarano
    Dipartimento di Scienze Neurologiche, Universita degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy
    J Neurol 252:901-3. 2005
    ..We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family...
  44. doi request reprint Neuropsychologic assessment and cognitive rehabilitation in a patient with locked-in syndrome and left neglect
    Luigi Trojano
    Neuropsychology Lab, Department of Psychology, Second University of Naples, Naples, Italy
    Arch Phys Med Rehabil 91:498-502. 2010
    ..This case report shows that specific rehabilitative approaches can be devised in severely disabled LIS patients with additional brain lesions and specific cognitive defects...
  45. ncbi request reprint Neurophysiologic evaluation of central-peripheral sensory and motor pudendal pathways in primary premature ejaculation
    A Perretti
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Urology 61:623-8. 2003
    ....
  46. ncbi request reprint Study of multimodal evoked potentials in patients with type 1 Gaucher's disease
    Anna Perretti
    Department of Neurological Sciences, Federico II University, Naples, Italy
    J Child Neurol 20:124-8. 2005
    ..Early detection of subclinical neurologic dysfunction can be useful in view of more effective therapeutic strategies...
  47. ncbi request reprint Early onset calpainopathy with normal non-functional calpain 3 level
    R Lanzillo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Dev Med Child Neurol 48:304-6. 2006
    ..This is the first genetically confirmed case of very early onset calpainopathy with a normal amount of protein at WB. Molecular analysis is also suggested in very young patients with normal WB...
  48. ncbi request reprint Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy
    F Barbieri
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Neurology 56:1412-4. 2001
    ..Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible...
  49. doi request reprint The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm
    Marcello Esposito
    Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy
    Neurol Sci 35:397-400. 2014
    ..This study shows that the treatment of typical BS can have better results when BoNT is injected with the combined technique in primary and secondary resistant patients...
  50. ncbi request reprint A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
    Antonella Carsana
    CEINGE Biotecnologie Avanzate, Naples, Italy
    Front Biosci (Elite Ed) 2:547-58. 2010
    ..Large cohort studies from different geographic areas may be important for mutation typology comparisons and their appropriate analytical approach...
  51. ncbi request reprint Brain damage in glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Universita Federico II, Naples, Italy
    J Pediatr 144:637-42. 2004
    ..To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI)...
  52. ncbi request reprint Is Ross syndrome a dysautonomic disorder only? An electrophysiologic and histologic study
    A Perretti
    Department of Neurological Sciences, University of Naples Federico II, Via Sergio Pansini 5, Naples, Italy
    Clin Neurophysiol 114:7-16. 2003
    ..To define the involvement of peripheral nerve fibers in Ross syndrome...
  53. ncbi request reprint Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study
    G Coppola
    Department of Neurological Sciences, Universita Federico II, Napoli, Italy
    J Neurol 246:353-7. 1999
    ..719+/-184 GAA triplets) in FARR patients. The neurophysiological findings were consistent with milder peripheral neuropathy and milder impairment of the somatosensory pathways in FARR patients...
  54. ncbi request reprint Electrophysiologic characterization in spinocerebellar ataxia 17
    F Manganelli
    Department of Neurologic Sciences, Federico II University, Naples, Italy
    Neurology 66:932-4. 2006
    ..Somatosensory evoked potentials were abnormal in almost all our patients, and abnormalities were consistent with a somatosensory pathway involvement along the brainstem...
  55. ncbi request reprint Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity
    A Carsana
    Dipartimento di Biochimica e Biotecnologie Mediche, Universita degli Studi di Napoli Federico II, and CEINGE Biotecnologie Avanzate, Via S Pansini 5, 80131 Napoli, Italy
    Ann Hum Genet 69:253-9. 2005
    ..Our data obtained in BMD patients, by confirming inferences arising from minigene transfection experiments in mdx mice, represent an important contribution to gene therapy approaches...
  56. ncbi request reprint Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study
    Alfonso Di Costanzo
    Department of Neurological Sciences, Second University of Naples, Piazza L Miraglia, 2, 80138 Naples, Italy
    J Neurol 249:1175-82. 2002
    ....
  57. ncbi request reprint Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nat Genet 28:223-31. 2001
    ..The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity...
  58. ncbi request reprint Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family
    M Ragno
    Department of Clinical Neurology, Ascoli Piceno, Italy
    Neurol Sci 26:67-71. 2005
    ..These data confirm that SCA1 phenotype is characterised by early and prevalent pyramidal tract involvement and that peripheral neuropathy is a late and moderate complication...
  59. ncbi request reprint Reliability of clinical outcome measures in Charcot-Marie-Tooth disease
    A Solari
    Neuroepidemiology Unit, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Neuromuscul Disord 18:19-26. 2008
    ..All outcome measures appear adequate for CMT assessment. Use of an immobilization device improves foot MVIC reliability, preventing biased findings in patients with greater strength...
  60. ncbi request reprint Axonal degeneration in systemic sclerosis can be reverted by factors improving tissue oxygenation
    V Provitera
    Rheumatology (Oxford) 46:1739-41. 2007