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8. Mutation in the α-Synuclein Gene Indentified in Families with Parkinson's Disease

Author

Polymeropoulos, Mihael H., Lavedan, Christian, Leroy, Elisabeth, Ide, Susan E., Dehejia, Anindya, Dutra, Amalia, Pike, Brian, Root, Holly, Rubenstein, Jeffrey, Boyer, Rebecca, Stenroos, Edward S., Chandrasekharappa, Settara, Athanassiadou, Aglaia, Papapetropoulos, Theodore, Johnson, William G., Lazzarini, Alice M., Duvoisin, Roger C., Di Iorio, Giuseppe, Golbe, Lawrence I., and Nussbaum, Robert L.

Published
1997

10. Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

Author

Polymeropoulos, Mihael H., Higgins, Joseph J., Golbe, Lawrence I., Johnson, William G., Ide, Susan E., Di Iorio, Giuseppe, Sanges, Giuseppe, Stenroos, Edward S., Pho, Lana T., Schaffer, Alejandro A., Lazzarini, Alice M., Nussbaum, Robert L., and Duvoisin, Roger C.

Published
1996

13. Diffuse glioblastoma resembling acute hemorrhagic leukoencephalitis

Author

Carla, Schettino, Ferdinando, Caranci, LUS, Giacomo, Elisabetta, Signoriello, Marica, Eoli, Elena, Anghileri, Bianca, Pollo, MELONE, Mariarosa Anna Beatrice, DI IORIO, Giuseppe, Gaetano, Finocchiaro, Lorenzo, Ugga, Enrico, Tedeschi, CARANCI, Ferdinando, Schettino, Carla, Caranci, Ferdinando, Lus, Giacomo, Signoriello, Elisabetta, Eoli, Marica, Anghileri, Elena, Pollo, Bianca, Melone, Mariarosa A. B., Di Iorio, Giuseppe, Finocchiaro, Gaetano, Ugga, Lorenzo, Tedeschi, Enrico, Carla, Schettino, Ferdinando, Caranci, Marica, Eoli, Elena, Anghileri, Bianca, Pollo, Melone, Mariarosa Anna Beatrice, DI IORIO, Giuseppe, Gaetano, Finocchiaro, Lorenzo, Ugga, and Enrico, Tedeschi

Subjects
Pathology, medicine.medical_specialty, Radiology, Nuclear Medicine and Imaging, Ataxia, Case Report, Neuropathology, Acute disseminated encephalomyelitis, Acute hemorrhagic encephalitis, Diffuse glioma, Neurooncology, 03 medical and health sciences, Diffuse Glioma, 0302 clinical medicine, Nuclear Medicine and Imaging, medicine, 030212 general & internal medicine, Acute hemorrhagic encephaliti, Acute Hemorrhagic Encephalitis, medicine.diagnostic_test, business.industry, Brain biopsy, medicine.disease, Acute disseminated encephalomyeliti, medicine.symptom, Differential diagnosis, Radiology, business, 030217 neurology & neurosurgery
Abstract

We report the case of a young man with sudden onset of diplopia after an upper respiratory tract infection. Based on the first radiological findings acute hemorrhagic leukoencephalitis, a variant of acute disseminated encephalomyelitis, was suspected and treatment with high dose intravenous dexamethasone was started but it was stopped for intolerance. The patient clinically worsened, developing gait instability, ataxia and ophthalmoplegia; brain MRI performed 20 days later showed severe progression of the disease with subependymal dissemination. After brain biopsy of the right temporal lesion the histological diagnosis was glioblastoma. These findings suggest that MRI features of acute hemorrhagic leukoencephalitis may dissimulate the diagnosis of diffuse glioma/glioblastoma. This case underscores the importance of considering diffuse glioma in the differential diagnosis of atypical signs and symptoms of acute hemorrhagic leukoencephalitis and underlines the relevant role of integrating neuroradiologic findings with neuropathology.

Published
2017

19. Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Author

Napolitano, Filomena, Terracciano, Chiara, Bruno, Giorgia, De Blasiis, Paolo, Lombardi, Luca, Gialluisi, Alessandro, Gianfrancesco, Fernando, De Giovanni, Donatella, Tummolo, Albina, Di Iorio, Giuseppe, Limongelli, Giuseppe, Esposito, Teresa, Melone, Mariarosa Anna Beatrice, and Sampaolo, Simone

Subjects
GLYCOGEN storage disease type II, PHENOTYPES, AUTOPHAGY, MUSCLE diseases, EXOMES
Abstract

Background: Autophagic vacuolar myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α‐glucosidase (GAA) deficiency is the best‐characterised AVM. Aims: This study aimed to investigate the mutational profiling of seven neuromuscular outpatients sharing clinical, myopathological and biochemical findings with AVMs. Methods: We applied a diagnostic protocol, recently published by our research group for suspected late‐onset GSDII (LO‐GSDII), including counting PAS‐positive lymphocytes on blood smears, dried blood spot (DBS)‐GAA, muscle biopsy histological and immunofluorescence studies, GAA activity assay and expression studies on muscle homogenate, GAA sequencing, GAA multiplex ligation‐dependent probe amplification (MLPA) and whole exome sequencing (WES). Results: The patients had a limb girdle‐like muscular pattern with persistent hyperCKaemia; vacuolated PAS‐positive lymphocytes, glycogen accumulation and impaired autophagy at muscle biopsy. Decreased GAA activity was also measured. While GAA sequencing identified no pathogenic mutations, WES approach allowed us to identify for each patient an unexpected mutational pattern in genes cooperating in lysosomal‐autophagic machinery, some of which have never been linked to human diseases. Conclusions: Our data suggest that reduced GAA activity may occur in any condition of impaired autophagy and that WES approach is advisable in all genetically undefined cases of autophagic myopathy. Therefore, deficiency of GAA activity and PAS‐positive lymphocytes should be considered as AVM markers together with LC3/p62‐positive autophagic vacuoles. [ABSTRACT FROM AUTHOR]

Published
2021
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20. Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

Author

Gianfrancesco Fernando, Griffiths Lyn R, Diodato Daria, Farina Olimpia, Sampaolo Simone, Aloia Andrea, Formicola Daniela, Di Iorio Giuseppe, and Esposito Teresa

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Glutamate is the principal excitatory neurotransmitter in the central nervous system which acts by the activation of either ionotropic (AMPA, NMDA and kainate receptors) or G-protein coupled metabotropic receptors. Glutamate is widely accepted to play a major role in the path physiology of migraine as implicated by data from animal and human studies. Genes involved in synthesis, metabolism and regulation of both glutamate and its receptors could be, therefore, considered as potential candidates for causing/predisposing to migraine when mutated. Methods The association of polymorphic variants of GRIA1-GRIA4 genes which encode for the four subunits (GluR1-GluR4) of the alpha-amino-3- hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor for glutamate was tested in migraineurs with and without aura (MA and MO) and healthy controls. Results Two variants in the regulative regions of GRIA1 (rs2195450) and GRIA3 (rs3761555) genes resulted strongly associated with MA (P = 0.00002 and P = 0.0001, respectively), but not associated with MO, suggesting their role in cortical spreading depression. Whereas the rs548294 variant in GRIA1 gene showed association primarily with MO phenotype, supporting the hypothesis that MA and MO phenotypes could be genetically related. These variants modify binding sites for transcription factors altering the expression of GRIA1 and GRIA3 genes in different conditions. Conclusions This study represents the first genetic evidence of a link between glutamate receptors and migraine.

Published
2010
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21. Mutation in the alpha-Synuclein Gene Identified in Families with Parkinson's Disease

Author

Polymeropoulos, Mihael H., Lavedan, Christian, Leroy, Elisabeth, Ide, Susan E., Dehejia, Anindya, Dutra, Amalia, Pike, Brian, Root, Holly, Rubenstein, Jeffrey, Boyer, Rebecca, Stenroos, Edward S., Chandrasekharappa, Settara, Athanassiadou, Aglaia, Papapetropoulos, Theodore, Johnson, William G., Lazzarini, Alice M., Duvoisin, Roger C., Di Iorio, Giuseppe, Golbe, Lawrence I., and Nussbaum, Robert L.

Published
1997

22. The genetic basis of undiagnosed muscular dystrophies and myopathies

Author

Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, Nigro, Vincenzo, Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, and Nigro, Vincenzo

Subjects
Male, Genetic Variation, Cohort Studies, Diagnosis, Differential, Female, Humans, Italy, Muscular Dystrophies, Sequence Analysis, Neurology (clinical), Settore MED/26 - NEUROLOGIA, Diagnosis, Differential
Published
2016

23. Efficacy of Memantine in Schizophrenic Patients: A Systematic Review

Author

Di Iorio, Giuseppe, Baroni, Gaia, Lorusso, Marco, Montemitro, Chiara, Spano, Maria Chiara, and di Giannantonio, Massimo

Subjects
Article Subject
Abstract

Several evidences support the hypothesis that glutamatergic dysfunction may be implicated in the pathogenesis of schizophrenia and in the last few years great interest has been focused on the role of the N-methyl-D-aspartate receptor (NMDAR). Glutamate is the main excitatory neurotransmitter in human CNS and it plays a prominent role in synaptic plasticity, learning, and memory and other cognitive functions. Increasing interest in memantine add-on therapy in schizophrenic patients with negative and cognitive symptoms may suggest that memantine could be a new promising treatment in schizophrenia. The aim of this update was to evaluate clinical data about the memantine effectiveness in schizophrenic patients. Our systematic review of the literature highlights that memantine therapy in schizophrenic patients seems to improve mainly negative symptoms while positive symptoms and cognitive symptoms did not improve significantly.

Published
2017
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25. Early diagnosis and early treatmentin LOPD: when asymptomatic patients should be treated

Author

Musumeci O, La Marca G, Pagliardini S, Spada M, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Angelini C, Filosto M, Tonin P, Servidei S, Siciliano G, Mongini T, Toscano A., DI IORIO, Giuseppe, Musumeci, O, La Marca, G, Pagliardini, S, Spada, M, Danesino, C, Comi, Gp, Pegoraro, E, Antonini, G, Marrosu, G, Liguori, R, Morandi, L, Moggio, M, Massa, R, Ravaglia, S, Di Muzio, A, Angelini, C, Filosto, M, Tonin, P, DI IORIO, Giuseppe, Servidei, S, Siciliano, G, Mongini, T, and Toscano, A.

Published
2014

27. An atypical case of sporadic presenile dementia

Author

Saracino D, COPPOLA, Cinzia, Di Fede G, Rossi G, Catania M, Piccoli E, Cilento R, Tagliavini F, DI IORIO, Giuseppe, Saracino, D, Coppola, Cinzia, Di Fede, G, Rossi, G, Catania, M, Piccoli, E, Cilento, R, Tagliavini, F, and DI IORIO, Giuseppe

Published
2014

31. Molecular basis and clinical manegement of Pompe disease

Author

Parenti G, Fiorentino G, Farina V, Fecarotta S, Valente F, Ascione S, Caputi Mario, Andria G., DI IORIO, Giuseppe, SAMPAOLO, Simone, Parenti, G, DI IORIO, Giuseppe, Sampaolo, Simone, Fiorentino, G, Farina, V, Fecarotta, S, Valente, F, Ascione, S, Caputi, Mario, and Andria, G.

Published
2013

32. Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Author

Napolitano, Filomena, Di Iorio, Valentina, Di Iorio, Giuseppe, Melone, Mariarosa Anna Beatrice, Gianfrancesco, Fernando, Simonelli, Francesca, Esposito, Teresa, Testa, Francesco, and Sampaolo, Simone

Subjects
GENETIC mutation, RETINAL detachment, EXTRACELLULAR matrix proteins, OPTICAL coherence tomography, MULTIPLE system atrophy
Abstract

Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD. [ABSTRACT FROM AUTHOR]

Published
2019
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36. Adult-onset Pompe disease

Author

DI IORIO, Giuseppe, Cipullo F, Stromillo L, Sodano L, Capone E, Farina O., DI IORIO, Giuseppe, Cipullo, F, Stromillo, L, Sodano, L, Capone, E, and Farina, O.

Published
2011

37. Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy

Author

Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Moggio M, Filosto M, Sette E, Pegoraro E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Siciliano G, Donati MA, Mongini T, Vercelli L, Di Giacopo R, Lucchini V, Tugnoli V, Rigoldi M, Piras R, Giannini F, Gasperini S, Volpi L. Diodato D, Ariatti A., DI IORIO, Giuseppe, Angelini, C, Semplicini, C, Ravaglia, S, Bembi, B, Servidei, S, Moggio, M, Filosto, M, Sette, E, Pegoraro, E, Crescimanno, G, Tonin, P, Parini, R, Morandi, L, Marrosu, G, Greco, G, Musumeci, O, DI IORIO, Giuseppe, Siciliano, G, Donati, Ma, Mongini, T, Vercelli, L, Di Giacopo, R, Lucchini, V, Tugnoli, V, Rigoldi, M, Piras, R, Giannini, F, Gasperini, S, Volpi L., Diodato D, and Ariatti, A.

Published
2011

38. 7. (2011). Exome sequencing approach to define the complex genetic substrate in a family with insulin resistance, left ventricular noncompaction (LVNC) and congenital fiber type disproportion (CFTD). In: XLII Congress of the Italian Neurological Society. NEUROLOGICAL SCIENCES, p. S285, ISSN: 1590-1874, Torino, 22-25 novembre, 2011

Author

Esposito T, Formicola D, Magliocca S, Gianfrancesco F, Simonetti M, Farina O, Cipullo F, Samapolo S, DI IORIO, Giuseppe, Esposito, T, Formicola, D, Magliocca, S, Gianfrancesco, F, Simonetti, M, Farina, O, Cipullo, F, Samapolo, S, and DI IORIO, Giuseppe

Published
2011

40. Clinical features and outcome measures during 1 year enzyme replacement therapy in late onset GSD II

Author

5. Angelini C, Semplicini C, Pegoraro E, Filosto M, Marrosu G, Piras R, Mongini t, Vercelli L, Tonin P, Servidei S, Di Giacopo R, Crescimanno G, Ravaglia S, Toscano A, Musumeci O, Siciliano G, Ricci G, Cipullo F, Moggio M, Comi G, Lucchini V, Morandi L., DI IORIO, Giuseppe, 5., Angelini C, Semplicini, C, Pegoraro, E, Filosto, M, Marrosu, G, Piras, R, Mongini, T, Vercelli, L, Tonin, P, Servidei, S, Di Giacopo, R, Crescimanno, G, Ravaglia, S, Toscano, A, Musumeci, O, Siciliano, G, Ricci, G, DI IORIO, Giuseppe, Cipullo, F, Moggio, M, Comi, G, Lucchini, V, and Morandi, L.

Published
2011

44. S1.3 Adult-onset Pompe disease

Author

Di Iorio, Giuseppe, Cipullo, Federica, Stromillo, Lucia, Sodano, Luisa, Capone, Elisa, and Farina, Olimpia

Subjects
Session 1. Pompe Disease: Clinical, Diagnostic and Genetic Aspects
Published
2011

45. Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection

Author

Melone, Mariarosa AB, Conforti,Renata, Capasso,Raffaella, Capaldo,Guglielmo, Dato,Clemente, Saracino,Dario, and Di Iorio,Giuseppe

Subjects
Neuropsychiatric Disease and Treatment
Abstract

Renata Conforti,1 Raffaella Capasso,1 Guglielmo Capaldo,2 Clemente Dato,2 Dario Saracino,2 Giuseppe Di Iorio,2 Mariarosa A Melone21Neuroradiology Unit, 2Division of Neurology and Interuniversity Centre for Research in Neuroscience, Department of Clinical and Experimental Medicine and Surgery, Second University of Naples, Naples, Italy Abstract: Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections. Keywords: Foix-Chavany-Marie syndrome, opercular syndrome, cytomegalovirus, cortical dysplasia, polymicrogyria&nbsp

Published
2014

46. Pharmacological Treatments in Gambling Disorder: A Qualitative Review

Author

Lupi, Matteo, Martinotti, Giovanni, Acciavatti, Tiziano, Pettorruso, Mauro, Brunetti, Marcella, Santacroce, Rita, Cinosi, Eduardo, Di Iorio, Giuseppe, Di Nicola, Marco, and Di Giannantonio, Massimo

Subjects
Article Subject
Abstract

Gambling disorder (GD) is a psychiatric condition associated with both social and family costs; DSM-5 currently includes GD among addictive disorders. Despite the high burden of this condition, to date there are no treatment guidelines approved by Food and Drug Administration (FDA). Purpose of this paper is to offer a qualitative overview about the different pharmacologic agents used for the treatment of GD. Our analysis, conducted on a final selection of 75 scientific papers, demonstrates that a variety of pharmaceutical classes have been utilised, with different results. Published data, although limited by brief duration of the studies and small number of enrolled subjects, shows mixed evidence for serotonergic antidepressants, opioid antagonists, and mood stabilizers. Other compounds, such as glutamatergic agents and psychostimulants, deserve further studies.

Published
2014
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48. Prostaglandin Synthesis Is Involved In The Induction Of MyoD Expression

Author

VIGGIANO AN, VICIDOMINI C, VIGGIANO E, DE LUCA B., SAMPAOLO, Simone, DI IORIO, Giuseppe, MONDA, Marcellino, VIGGIANO, Alessandro, AA.VV., Viggiano, An, Vicidomini, C, Sampaolo, Simone, DI IORIO, Giuseppe, Monda, Marcellino, Viggiano, E, Viggiano, Alessandro, and DE LUCA, B.

Published
2006

50. Peripheral nervous system involvement in Klippel-Trenaunay syndrome

Author

DI IORIO, Giuseppe, SAMPAOLO, Simone, SANGES G., SANNINO V., DE CRISTOFARO M., D'AMBROSIO M., BUDILLON A., DI IORIO, Giuseppe, Sanges, G., Sannino, V., DE CRISTOFARO, M., D'Ambrosio, M., Budillon, A., and Sampaolo, Simone

Subjects
Peripheral neuropathy, arteriovenous anastomoses, electron microscopy
Abstract

Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation of unknown etiology characterized by cutaneous hemangiomas, venous varicosities and bony and soft tissues hypertrophy usually affecting one limb. Several complex anomalies involving various organs and systems have been described, whereas involvement of the peripheral nervous system has rarely been reported in KTS. We describe the case of a 67-year-old woman with KTS and peripheral neuropathy related to the presence of epineurial microscopic arteriovenous anastomoses (AVA) and endoneurial vascular coils in sural nerve biopsy from both hypertrophic and non-hypertrophic limb. The maintenance of AVA has been proposed to be the cause of the hypertrophy. The observation in our patient of AVA in non-hypertrophic limb contrasts with this hypothesis.

Published
2005

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