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Elsevier电子期刊(80)

在“Elsevier电子期刊”中，命中：80条，耗时：0.0419816 秒

在所有数据库中总计命中：116条

1.Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

作者：Alexander M. Rossor^a ; ^{a.rossor@ucl.ac.uk} ; Jasper M. Morrow^a ; James M. Polke^b ; Sinead M. Murphy^c ; ^d ; Henry Houlden^a ; INC-RDCRC

关键词：Distal hereditary motor neuropathy ; Charcot&ndash ; Marie&ndash ; Tooth disease ; HSPB1 ; Neuromuscular disease ; Peripheral neuropathy

刊名：Neuromuscular Disorders

出版年：2017

2.Dejerine: The concept of peripheral neuropathy

作者：Jean-Michel Vallat¹ ; ^{jean-michel.vallat@unilim.fr} ; Sté ; phane Mathis²

刊名：Revue Neurologique

出版年：2017

3.Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

作者：Marco Luigetti^a ; ^{mluigetti@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Gian Maria Fabrizi^b ; Giulia Bisogni^a ; Angela Romano^a ; Federica Taioli^b ; Moreno Ferrarini^b ; Daniela Bernardo^a ; Paolo Maria Rossini^a ; ^c ; Mario Sabatelli^a ; ^d

关键词：Charcot-Marie-Tooth (CMT) ; Distal hereditary motor neuropathy (dHMN) ; CMT2/dHMN ; Neuropathy ; Neurophysiology ; Clinical phenotype

刊名：Clinical Neurology and Neurosurgery

出版年：2016

4.Hereditary neuropathies: An update

作者：T. Stojkovic ^{tanya.stojkovic@psl.aphp.fr}

关键词：Charcot-Marie-Tooth disease ; Hereditary sensory and autonomic neuropathy ; Distal hereditary motor neuropathy ; Transthyretin amyloid neuropathy

刊名：Revue Neurologique

出版年：2016

5.Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies

作者：Alexander Grimm^a ; ^{alexander.grimm@usb.ch" class="auth_mail" title="E-mail the corresponding author} ; Debora Vittore^a ; Victoria Schubert^a ; Christina Lipski^a ; Bianka Heiling^c ; Bernhard F. Dé ; card^b ; Hubertus Axer^c

关键词：AIDP ; acute immune-mediated demyelinating neuropathy ; AUC ; area under the curve ; CIDP ; chronic inflammatory demyelinating polyneuropathy ; CMAP ; compound muscle action potential ; CMT ; Charcot Marie Tooth (1a ; 1b ; X) ; CSA ; cross sectional area ; CSF ; cerebrospinal fluid ; CV ; conduction velocity ; DADS ; distal acquired demyelinating sensory ; dmL ; distal motor latency ; HS ; homogeneity score ; MADSAM ; multifocal acquired demyelinating sensory and motor neuropathy ; MMN ; multifocal motor neuropathy ; ms ; m

刊名：Clinical Neurophysiology

出版年：2016

6.HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration

作者：Veronica La Padula^a ; ^{veronicalapadula@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Ori Staszewski^b ; ^{ori.staszewski@uniklinik-freiburg.de" class="auth_mail" title="E-mail the corresponding author} ; Sigrun Nestel^c ; Hauke Busch^d ; ^e ; ^f ; ^{h.busch@dkfz.de" class="auth_mail" title="E-mail the corresponding author} ; Melanie Boerries^d ; ^e ; ^f ; ^{m.boerries@dkfz-heidelberg.de" class="auth_mail" title="E-mail the corresponding author} ; Eleni Roussa^a ; ^c ; ^{eleni.roussa@anat.uni-freiburg.de" class="auth_mail" title="E-mail the corresponding author} ; Marco Prinz^b ; ^g ; ^{marco.prinz@uniklinik-freiburg.de" class="auth_mail" title="E-mail the corresponding author} ; Kerstin Krieglstein^a ; ^{kerstin.krieglstein@uniklinik-freiburg.de" class="auth_mail" title="E-mail the corresponding author}

关键词：MN ; motoneuron ; PNS ; peripheral nervous system ; CMT ; Charcot-Marie-Tooth ; dHMN ; distal hereditary motor neuropathy ; HSPB ; small heat shock protein ; IOE ; in ovo electroporation ; LBR ; limb-bud removal

刊名：Experimental Neurology

出版年：2016

7.Distal hereditary motor neuropathy with HSJ1 chaperone mutation, presenting with peripheral motor neuropathy, associated to parkinsonism, and cerebellar ataxia. Case report

作者：Helio Teive¹ ; Fernando Kok² ; Salmo Raskin³ ; Walter Arruda¹

刊名：Parkinsonism & Related Disorders

出版年：2016

8.Erratum to “Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience” [Clin. Neurol. Neurosurg. 144 (2016) 67-71]

刊名：Clinical Neurology and Neurosurgery

出版年：2016

9.Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature

作者：Xinghua Luan^a ; ¹ ; Xiaojun Huang^b ; ¹ ; Xiaoli Liu^a ; Haiyan Zhou^a ; Shengdi Chen^a ; ^{chen_sd@medmail.com.cn" class="auth_mail" title="E-mail the corresponding author} ; Li Cao^a ; ^{caoli2000@yeah.net" class="auth_mail" title="E-mail the corresponding author}

关键词：Spinal muscular atrophy with respiratory distress type 1 (SMARD1) ; IGHMBP2 ; Diaphragmatic palsy ; Respiratory involvement ; Peripheral neuropathy

刊名：Brain and Development

出版年：2016

10.ID 159 - Madelung’s disease. A case report

作者：N. Ausí ; n Morales^a ; I. Lambarri San Martí ; n^a ; J. Barcena Llona^b ; A. Jauregui Barrutia^b ; A. Martí ; nez Zuluaga^a ; T. Vicario Elorduy^a ; I. Yurrebaso Santa Marí ; a^a

刊名：Clinical Neurophysiology

出版年：2016

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