Journal of the Peripheral Nervous System 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.2018 Peripheral Nerve Society Annual Meeting, July 22 –25, 2018
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - March 14, 2018 Category: Neurology Tags: ANNOUNCEMENT Source Type: research
Issue Information
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - March 14, 2018 Category: Neurology Tags: ISSUE INFORMATION Source Type: research
Functional outcome measures for infantile Charcot ‐Marie‐Tooth disease: A systematic review
Abstract
A functional outcome measure for infants (aged 0‐3 years) with Charcot‐Marie‐Tooth disease (CMT) is needed for upcoming disease‐modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for Spinal Muscular Atrophy (SMA). There were no CMT‐specific outcome measures identified, however one (Motor Function Measure) assessed a ...
Source: Journal of the Peripheral Nervous System - March 9, 2018 Category: Neurology Authors: Melissa R. Mandarakas, Kristy J. Rose, Oranee Sanmaneechai, Manoj P. Menezes, Kathryn M. Refshauge, Joshua Burns Tags: RESEARCH REPORT Source Type: research
The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population
ConclusionsOur study depicts a scenario of greater genetic heterogeneity among Brazilian hATTR patients with FAP. We expect that this number will grow fast over a short period of time, due to increasing availability of genetic tests, increasing knowledge of the disease and the multivariate origin of our population. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - March 9, 2018 Category: Neurology Authors: Carolina Lavigne ‐Moreira, Vanessa Daccach Marques, Marcus V Magno Gonçalves, Mauricio Fernandes de Oliveira, Pedro J Tomaselli, José Nunez, Osvaldo J Moreira do Nascimento, Amilton Antunes Barreira, Wilson Marques Tags: RESEARCH REPORT Source Type: research
N ‐hexane exposure: a cause of small fiber neuropathy
Abstract
A 59‐year old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small‐fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work‐up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N‐hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N‐hexane exposure, the patient had a progressive improvement o...
Source: Journal of the Peripheral Nervous System - March 1, 2018 Category: Neurology Authors: Raquel Guimar ães‐Costa, Yoland Schoindre, Arnaud Metlaine, Jean‐Pascal Lefaucheur, Jean‐Philippe Camdessanché, Thierry Maisonobe, Jean‐Marc Léger Tags: CASE REPORT Source Type: research
Cerebrospinal fluid total protein determination in acute and chronic inflammatory demyelinating polyneuropathies: a critical reappraisal
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 70-72, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - February 18, 2018 Category: Neurology Source Type: research
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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 70-72, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - February 18, 2018 Category: Neurology Source Type: research
Cerebrospinal fluid total protein determination in acute and chronic inflammatory demyelinating polyneuropathies: a critical reappraisal
(Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - February 18, 2018 Category: Neurology Authors: Diego Franciotta, Matteo Gastaldi, Elisabetta Zardini, Eduardo Nobile ‐Orazio Tags: LETTER TO THE EDITOR Source Type: research
Neuromuscular disease ‐specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy
Abstract
To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease‐specific questionnaire (individualized neuromuscular quality of life, INQoL) in a large cohort of patients with CIDP. Our study comprised 106 patients diagnosed with CIDP. INQoL questionnaire, Medical Research Council (MRC) sum score, Inflammatory Neuropathy Ca...
Source: Journal of the Peripheral Nervous System - February 14, 2018 Category: Neurology Authors: Aleksandra Kacar, Bogdan Bjelica, Ivo Bozovic, Stojan Peric, Ana Nikolic, Mina Cobeljic, Milutin Petrovic, Aleksandar Stojanov, Gordana Djordjevic, Zoran Vukojevic, Aleksandra Dominovic ‐Kovacevic, Miroslav Stojanovic, Zorica Stevic, Vidosava Rakocevic Tags: RESEARCH REPORT Source Type: research
Clinical and genetic features of Charcot ‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan
In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole‐exome sequencing. We identified HSPB1 variants in 1.3% (13 of 1,030) of the patients with IPNs, who exhibited a male predominance. Based on neurological and electrophysiological findings, seven patients were diagnosed with CMT disease type 2F, whereas the remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B. P39L, R127W, S135C, R140G, K141Q, T151I, and P182A mutations id...
Source: Journal of the Peripheral Nervous System - February 14, 2018 Category: Neurology Authors: Hajime Tanabe, Yujiro Higuchi, Jun ‐Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Satoshi Ishihara, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Hiroyuki Ishiura, Jun Mitsui, Ryotaro Takashima, Norito Kokubun, Kengo Maeda, Yuri Asano, Yoko Sunami, Yu K Tags: RESEARCH REPORT Source Type: research
Clinical and genetic features of Charcot ‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 40-48, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 30, 2018 Category: Neurology Source Type: research
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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 40-48, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 30, 2018 Category: Neurology Source Type: research
Neuromuscular disease ‐specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 11-16, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 23, 2018 Category: Neurology Source Type: research
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Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 11-16, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 23, 2018 Category: Neurology Source Type: research
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot ‐Marie‐Tooth disease family
Journal of the Peripheral Nervous System,Volume 23, Issue 1, Page 60-66, March 2018. (Source: Journal of the Peripheral Nervous System)
Source: Journal of the Peripheral Nervous System - January 17, 2018 Category: Neurology Source Type: research
