- Muscle MRI in adult-onset acid maltase deficiencyAnna Pichiecchio
Department of Neuroradiology, Fondazione Istituto Neurologico C Mondino IRCCS, Via Palestro 3, 27100, Pavia, Italy
Neuromuscul Disord 14:51-5. 2004..Further control studies in a larger cohort are needed to evaluate the specificity of these findings...
- Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothersDavide Tonduti
Department of Child Neurology and Psychiatry Unit, IRCCS, C Mondino National Institute of Neurology, Foundation, Pavia, Italy
Neuropediatrics 44:213-7. 2013..Our findings suggest that HEMS patients should undergo a new magnetic resonance imaging evaluation after a certain interval to look for possible progression of the abnormalities. ..
- Postinfectious neurologic syndromes: a prospective cohort studyEnrico Marchioni
C Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Neurology 80:882-9. 2013..In this study, we aimed to a) describe the spectrum of PINSs; b) define predictors of outcome in PINSs; and c) assess the clinical/paraclinical features that help differentiate PINSs from multiple sclerosis (MS)...
- Enzyme replacement therapy in severe adult-onset glycogen storage disease type IISabrina Ravaglia
Institute of Neurology IRCCS C Mondino, University of Pavia, Pavia, Italy
Adv Ther 25:820-9. 2008..Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT...
- Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength responseSabrina Ravaglia
Department of Neurological Sciences, University of Pavia, Pavia, Italy
J Inherit Metab Dis 33:737-45. 2010..The better outcome of patients with low BMI, if confirmed, may indicate that dietary protocols could be adopted as adjuvant measures to ERT in adult GSDII...
- Dietary treatment in adult-onset type II glycogenosisSabrina Ravaglia
Institute of Neurology IRCCS C Mondino, University of Pavia, Pavia, Italy
J Inherit Metab Dis 29:590. 2006....
- COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointersDavide Tonduti
Child Neurology and Psychiatry Unit, C Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Neuropediatrics 43:283-8. 2012..Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific...
- Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial casesGloria Maccabelli
Neuroradiology Unit, Neurological Institute IRCCS C Mondino Foundation, Pavia, Italy
Mov Disord 25:2670-4. 2010..With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients...
- Spinal cord calcification in an early-onset progressive leukoencephalopathySimona Orcesi
Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Pavia, Italy
J Child Neurol 26:876-80. 2011..In our opinion, our case, and probably 2 previously reported Japanese siblings with a picture very similar to that of our patient, could represent a new, progressive leukoencephalomyelopathy...
- Pathogenetic role of myelitis for syringomyeliaSabrina Ravaglia
Institute of Neurology C Mondino, University of Pavia, Pavia, Italy
Clin Neurol Neurosurg 109:541-6. 2007..Recently proposed theories underline, even in the event of CSF-flow obstructions, a major role for the accumulation and final coalescence of interstitial spinal fluid, rather than CSF penetration through the spinal cord...
- The N3 potential compared to sound and galvanic vestibular evoked myogenic potential in healthy subjects and in multiple sclerosis patientsMaurizio Versino
Fondazione Istituto Neurologico C Mondino, IRCCS and Dipartimento Scienze Neurologiche Università di Pavia, Pavia, Italy
J Vestib Res 17:39-46. 2007..The three techniques detected a similar number of abnormalities, but these abnormalities were not correlated. This suggests that these different techniques should be regarded as complementary in evaluating saccular function...
- Magnetic resonance spectroscopy in the evaluation of treatment efficacy in unipolar major depressive disorder: a review of the literatureEduardo Caverzasi
C Mondino Institute of Neurology Foundation, IRCCS, Pavia, Italy
Funct Neurol 27:13-22. 2012....
- Cerebellum enlargement and corpus callosum agenesis: a longitudinal case reportAnna Pichiecchio
Neuroradiology Department, IRCCS C Mondino Foundation, National Neurological Institute, Pavia, Italy
J Child Neurol 26:756-60. 2011..We describe a 19-month-old patient with agenesis of the corpus callosum, who developed enlargement of the cerebellum without clinical signs of cerebellar impairment, a picture that has not been previously described...
- A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular eventsAlice Decio
Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy
Am J Med Genet A 167:810-5. 2015..In conclusion, our patient shows new aspects of this collagenopathy and possibly a COL4A1 compound heterozygosity. © 2015 Wiley Periodicals, Inc. ..
- Limbic hyperconnectivity in the vegetative stateCarol Di Perri
From the Department of Neuroradiology C D P, A P, P V, National Neurological Institute C Mondino, Pavia Department of Neuroradiology S B, Neurological Institute C Mondino, University of Pavia, Italy Coma Science Group C D P, S L, Cyclotron Research Centre and Neurology Department, University and University Hospital of Liège, Belgium Department of Cognitive Neuroscience C D P, F D S, Faculty of Psychology and Neuroscience, Maastricht University, the Netherlands Department of Neuroradiology A J B, University of Heidelberg, Germany Functional MRI of the Brain A J B, University of Oxford, UK Neurorehabilitation Unit C P, G M, IRCCS, S Maugeri Foundation, via Maugeri, Pavia, Italy Department of Surgical Sciences, University of Pavia L M, Department of Anesthesiology and Critical Care Medicine R I, Fondazione IRCCS, Policlinico S Matteo, Pavia University of Salerno F D S, Medical Faculty and Fondazione Eugenio Medea F D S, Lecco, Italy
Neurology 81:1417-24. 2013..To investigate functional connectivity between the default mode network (DMN) and other networks in disorders of consciousness...
- Pisa syndrome in Parkinson's disease: clinical, electromyographic, and radiological characterizationCristina Tassorelli
IRCCS National Neurological Institute C Mondino Foundation, Pavia, Italy
Mov Disord 27:227-35. 2012..This postural abnormality deserves attention and proper early treatment to prevent comorbidities and pain...
- Epileptic mechanisms in Charles Bonnet syndromeMaria Ossola
Epilepsy Centre, IRCCS C Mondino Institute of Neurology Foundation, Pavia, Italy
Epilepsy Behav 18:119-22. 2010..EEG assessment is recommended if CBS develops in a patient with unexplained worsening of existing neurological signs...
- Severe steroid-resistant post-infectious encephalomyelitis: general features and effects of IVIgSabrina Ravaglia
Institute of Neurology C Mondino, Pavia, Italy
J Neurol 254:1518-23. 2007..Unsolved issues regard the usefulness of IVIg in less selected groups, and the spectrum of their clinical effects...
- Brain white matter impairment in congenital adrenal hyperplasiaRoberto Bergamaschi
Multiple Sclerosis Center, Service of Neuroradiology, and Department of Neurology of the Neurological Institute C Mondino, Pavia, Italy
Arch Neurol 63:413-6. 2006..Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH...
- Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophyAnna Pichiecchio
Department of Neuroradiology, Istituto Neurologico Fondazione C Mondino I R C C S, Via Palestro, 3, 27100 Pavia, Italy
Eur Radiol 12:2704-9. 2002..001). Our MR study proved to be accurate and easy to apply, although it was time-consuming. We recommend it in monitoring the progression of the disease and planning DMD patients' diet...
- Parry-Romberg syndrome with migraine and intracranial aneurysmAnna Pichiecchio
Neuroradiology Department, Istituto Neurologico IRCCS Fondazione C Mondino via Palestro, Pavia, Italy
Neurology 59:606-8; discussion 481. 2002..The findings support the hypothesis that the disease could be related to a neural crest migration disorder, from which both fronto-nasal mass and cranial vessels take origin...
- Relevance of clinical findings for multiple sclerosis diagnosis in the MRI era: a case reportRoberto Bergamaschi
Mult Scler 11:93. 2005
- A short protocol for muscle MRI in children with muscular dystrophiesEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial School of Medicine, Hammersmith Hospital, London, UK
Eur J Paediatr Neurol 6:305-7. 2002....