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在“Elsevier电子期刊”中，命中：202条，耗时：0.0190201 秒

在所有数据库中总计命中：236条

1.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

2.Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method

作者：Arito Yozu^a ; ^{yodu-jscn@umin.net" class="auth_mail" title="E-mail the corresponding author} ; Nobuhiko Haga^a ; Tetsuro Funato^b ; Dai Owaki^c ; Ryosuke Chiba^d ; Jun Ota^e

关键词：Hereditary sensory and autonomic neuropathy (HSAN) ; Congenital insensitivity to pain ; Nerve growth factor (NGF) ; Multiple fractures ; Motor learning ; Rehabilitation

刊名：Neuroscience Research

出版年：2016

3.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

4.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

5.56. Ultrasound (US) in the assessment of hereditary motor and sensory neuropathies (HMSN type I)

作者：F. Sartucci ; T. Bocci ; A. Di Rollo ; C. Del Gamba ; M. Bartolotta ; D. Barloscio ; L. Parenti ; M. Santin ; E. Giorli

刊名：Clinical Neurophysiology

出版年：2016

6.CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

作者：A. Kariminejad^a ; ^{arianakariminejad@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; L. Schö ; ls^b ; ^c ; R. Schü ; le^b ; ^c ; ^d ; S.H. Tonekaboni^e ; A. Abolhassani^a ; M. Fadaee^a ; R.O. Rosti^f ; J.G. Gleeson^f

关键词：Hereditary spastic paraplegia ; CYP2U1 ; SPG56 ; Complicated ; Dystonia ; Regression

刊名：European Journal of Paediatric Neurology

出版年：2016

7.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

8.Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease

作者：Alena Kobesova ; MD ; PhD^a ; ^{alenamudr@me.com" class="auth_mail" title="E-mail the corresponding author} ; Marcela Nyvltova ; MPT^a ; Josef Kraus ; MD ; PhD^b ; Pavel Kolar ; PaedDr ; PhD^a (Prof) ; Angela Sardina ; MS^c ; Radim Mazanec ; MD ; PhD^d ; Ross Andel ; PhD^c

关键词：Charcot-Marie-Tooth disease ; Hereditary motor and sensory neuropathy ; Hand strength ; Manual dexterity ; Sensory function

刊名：Journal of Hand Therapy

出版年：2016

9.KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system

作者：Yuan-Ting Sun^a ; ^b ; ^c ; Shun-Fen Tzeng^d ; Thy-Sheng Lin^a ; Kuei-Sen Hsu^e ; Eric Delpire^f ; Meng-Ru Shen^e ; ^g ; ^{mrshen@mail.ncku.edu.tw" class="auth_mail" title="E-mail the corresponding author}

关键词：ACC ; Agenesis of the Corpus Callosum ; CMAPs ; compound motor action potentials ; HMSN ; Hereditary Motor and Sensory Neuropathy ; KCC3 ; K+&ndash ; Cl&minus ; cotransporter type 3 ; PBS ; phosphate-buffered saline ; PNJ ; paranodal junction ; PNS ; peripheral nervous system ; SDTC ; strength&ndash ; duration time constant ; TEM ; transmission electron microscopy

刊名：Neuroscience

出版年：2016

10.Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

作者：Marzieh Khani^a ; Hosein Shamshiri^b ; Afagh Alavi^c ; Shahriar Nafissi^b ; Elahe Elahi^a ; ^d ; ^{elaheelahi@ut.ac.ir" class="auth_mail" title="E-mail the corresponding author} ; ^{elahe.elahi@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：HMSN-P ; Hereditary motor and sensory neuropathy with proximal predominance ; TFG ; p.Gly269Val ; Neuronopathy

刊名：Journal of the Neurological Sciences

出版年：2016

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