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Axonal degeneration with unusual lesions of the myelin in an occupational neuropathy.
Vital A, Vital C, Arnaud A, Moesch C, Lagueny A. Vital A, et al. Ultrastruct Pathol. 2006 Jul-Aug;30(4):261-6. doi: 10.1080/01913120600820278. Ultrastruct Pathol. 2006. PMID: 16971351
A 35-year-old man had prolonged occupational exposure to lead carboxylate, triethylbenzene, xylene, and dichloromethane, when he developed a subacute predominantly sensory neuropathy. ...Biochemical analysis of lead in a frozen peripheral nerve specimen revea
A 35-year-old man had prolonged occupational exposure to lead carboxylate, triethylbenzene, xylene, and dichloromethane, when he deve
[Neuropathological aspects of peripheral nervous system vasculitis].
Vital A, Vital C. Vital A, et al. Rev Neurol (Paris). 2008 Apr;164 Spec No 2:F126-30. Rev Neurol (Paris). 2008. PMID: 18680830 Review. French. No abstract available.
Immunohistochemical assessment of human herpesvirus 8 infection in primary central nervous system large B cell lymphomas.
Gomez-Brouchet A, Delisle MB, Vital A, Brousset P. Gomez-Brouchet A, et al. J Clin Pathol. 2001 Aug;54(8):617-8. doi: 10.1136/jcp.54.8.617. J Clin Pathol. 2001. PMID: 11477117 Free PMC article.
Human herpesvirus 8 (HHV-8) has been detected in these tumours by the polymerase chain reaction (PCR) at low copy number, suggesting its presence in a cell compartment other than the malignant one. The aim of this study was to use immunohistochemistry to assess HHV-8 infec …
Human herpesvirus 8 (HHV-8) has been detected in these tumours by the polymerase chain reaction (PCR) at low copy number, suggesting its pre …
Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene.
Lagueny A, Latour P, Vital A, Le Masson G, Rouanet M, Ferrer X, Vital C, Vandenberghe A. Lagueny A, et al. J Neurol Neurosurg Psychiatry. 2001 Feb;70(2):232-5. doi: 10.1136/jnnp.70.2.232. J Neurol Neurosurg Psychiatry. 2001. PMID: 11160475 Free PMC article.
Clinical, electrophysiological, and neuropathological features are reported associated with a novel heterozygote point mutation in the extracellular domain of the MPZ gene, where a transversion at codon 71 in exon 3 leads to a codon stop: Glu71stop (ie GAA--& …
Clinical, electrophysiological, and neuropathological features are reported associated with a novel heterozygote point mutation in th …
High-grade B-cell cerebral lymphoma in a patient with anti-myelin-associated glycoprotein IgM paraproteinemic neuropathy.
Ellie E, Vital A, Steck AJ, Julien J, Henry P, Vital C. Ellie E, et al. Neurology. 1995 Feb;45(2):378-81. doi: 10.1212/wnl.45.2.378. Neurology. 1995. PMID: 7531825
A 74-year-old woman with a sensory neuropathy and IgM M-protein monoclonal gammopathy of undetermined significance developed a fatal B-cell cerebral lymphoma. CSF protein immunofixation revealed intrathecal secretion of a paraprotein of the same heavy-
A 74-year-old woman with a sensory neuropathy and IgM M-protein monoclonal gammopathy of undetermined significance developed
Serum IgG antibodies to P0 dimer and 35 kDa P0 related protein in neuropathy associated with monoclonal gammopathy.
Favereaux A, Lagueny A, Vital A, Schmitter JM, Chaignepain S, Ferrer X, Labatut-Cazabat I, Vital C, Petry KG. Favereaux A, et al. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1262-6. doi: 10.1136/jnnp.74.9.1262. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933931 Free PMC article.
Deglycosylation did not affect IgG binding to the 35 kDa P0 related protein, suggesting a peptidic epitope. In contrast, deglycosylation abolished IgG recognition of the P0 dimer protein, so that a carbohydrate moiety may be implicated in the epitope formation. ...A …
Deglycosylation did not affect IgG binding to the 35 kDa P0 related protein, suggesting a peptidic epitope. In contrast, deglycosylat …
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
Vital A, Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C. Vital A, et al. J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028. J Peripher Nerv Syst. 2013. PMID: 23781966
We report a severe phenotype of Charcot-Marie-Tooth (CMT) disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. Ultrastructural examination of a nerve biopsy showed non- or partly myelinated axons which were surrounded by "onion bulb" format …
We report a severe phenotype of Charcot-Marie-Tooth (CMT) disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutati …
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C. Vital A, et al. Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28. Neuromuscul Disord. 2012. PMID: 22546700
The proband, a 41-year-old woman, and her daughter present a severe axonal form of Charcot-Marie-Tooth (CMT) disease. Both are heterozygous for the well-described mild variant p.R120W in GDAP1, which was transmitted by the pauci symptomatic proband's mother. ...A
The proband, a 41-year-old woman, and her daughter present a severe axonal form of Charcot-Marie-Tooth (CMT) disease. Both are …
Mitochondria and peripheral neuropathies.
Vital A, Vital C. Vital A, et al. J Neuropathol Exp Neurol. 2012 Dec;71(12):1036-46. doi: 10.1097/NEN.0b013e3182764d47. J Neuropathol Exp Neurol. 2012. PMID: 23147504
Some cases are caused by consanguinity, but most are sporadic with various phenotypes mimicking a wide range of other etiologies. Histochemistry on muscle biopsy, as well as identification of crystalloid inclusions at electron microscopy, may provide a diagnostic cl …
Some cases are caused by consanguinity, but most are sporadic with various phenotypes mimicking a wide range of other etiologies. His …
Inflammatory demyelination in a patient with CMT1A.
Vital A, Vital C, Lagueny A, Ferrer X, Ribière-Bachelier C, Latour P, Petry KG. Vital A, et al. Muscle Nerve. 2003 Sep;28(3):373-6. doi: 10.1002/mus.10404. Muscle Nerve. 2003. PMID: 12929199
We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. ...This observation supports some experimental …
We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an …
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