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在“SpringerLink电子期刊”中，命中：49条，耗时：小于0.01 秒

1. Proteasome impairment in neural cells derived from HMSN-P patient iPSCs

作者： Nagahisa Murakami ; Keiko Imamura ; Yuishin Izumi ; Naohiro Egawa…

关键词：HMSNP ; TFG ; UPS ; Neurodegeneration ; iPSCs ; Gene correction ; CRISPR ; Cas9

刊名：Molecular Brain

出版年：2017

2. Diagnostic accuracy of nerve ultrasound in hereditary and sporadic non-entrapment neuropathies

作者： Kai F. Loewenbrück ; Markus Dittrich ; Josef Böhm…

关键词：PNP ; Peripheral neuropathy ; HMSN ; CMT ; Nerve ultrasound ; Diagnosis ; NCS ; Nerve conduction studies ; Electrophysiology

刊名：Journal of Neurology

出版年：2016

3. Acute optic neuropathy associated with a novel MFN2 mutation

作者： Luca Leonardi ; Christian Marcotulli ; Eugenia Storti…

关键词：CMT2A ; HSMN VI ; MFN2 ; Bilateral acute optic neuropathy

刊名：Journal of Neurology

出版年：2015

4. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

作者：Maria Schabhüttl (1)
Thomas Wieland (2)
Jan Senderek (3)
Jonathan Baets (4) (5) (6)
Vincent Timmerman (5) (7)
Peter De Jonghe (4) (5) (6)
Mary M. Reilly (8)
Karl Stieglbauer (9)
Eva Laich (10)
Reinhard Windhager (1)
Wolfgang Erwa (11)
Slave Trajanoski (12)
Tim M. Strom (13) (2)
Michaela Auer-Grumbach (1)

关键词：IPN ; CMT ; dHMN ; HMSN ; WES

刊名：Journal of Neurology

出版年：2014

作者：Barbara W van Paassen (7)
Anneke J van der Kooi (8)
Karin Y van Spaendonck-Zwarts (7)
Camiel Verhamme (8)
Frank Baas (9)
Marianne de Visser (8)

7. Department of Clinical Genetics ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands
8. Department of Neurology ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands
9. Department of Genome Analysis ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands

关键词：Peripheral myelin protein 22 (PMP22) ; Charcot ; Marie ; Tooth disease type 1A (CMT1A) ; Hereditary Motor and Sensory Neuropathy type Ia (HMSN Ia) ; Hereditary Neuropathy with liability to Pressure Palsies (HNPP) ; Demyelinating ; Clinical description ; Genetic counselling

刊名：Orphanet Journal of Rare Diseases

出版年：2014

6. Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia

作者：Dana Gabrikova (1)
Martin Mistrik (2)
Jarmila Bernasovska (1)
Alexandra Bozikova (1)
Regina Behulova (1)
Iveta Tothova (1)
Sona Macekova (1)

关键词：Charcotarieooth ; HMSN ; Lom ; HMSN ; Russe ; CMT4D ; CMT4G

刊名：Journal of Applied Genetics

出版年：2013

7. Immunization of mice by Hollow Mesoporous Silica Nanoparticles as carriers of Porcine Circovirus Type 2 ORF2 Protein

作者：Hui-Chen Guo (1)
Xiao-Ming Feng (1)
Shi-Qi Sun (1)
Yan-Quan Wei (1)
De-Hui Sun (1)
Xiang-Tao Liu (1)
Zai-Xin Liu (1)
Jian-Xiong Luo (1)
Hong Yin (1)

关键词：Hollow mesoporous silica nanoparticles (HMSNs) ; Porcine circovirus type 2 (PCV2) ; ORF2 ; Delivery ; Immunization ; Mice

刊名：Virology Journal

出版年：2012

8. Microfluidization-assisted synthesis of hollow mesoporous silica nanoparticles

作者： Min Li ; Chun Zhang ; Xiang-Liang Yang…

关键词：Hollow mesoporous silica nanoparticles ; Cetyltrimethylammonium bromide ; Microfluidization

刊名：Journal of Sol-Gel Science and Technology

出版年：2013

9. MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic

作者：I. M. Khidiyatova (19841) (29841)
I. A. Skachkova (19841)
E. V. Saifullina (39841)
R. V. Magzhanov (39841)
O. A. Schagina (49841)
R. A. Zinchenko (49841)
A. N. Petrin (59841)
E. K. Khusnutdinova (19841) (29841)

刊名：Russian Journal of Genetics

出版年：2013

10. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble-overlapping syndromes

作者：Olivia Schreiber (1)
Peter Schneiderat (1)
Wolfram Kress (2)
Bernd Rautenstrauss (3)
Jan Senderek (1)
Benedikt Schoser (1)
Maggie C Walter (1)

关键词：Facioscapulohumeral muscular dystrophy ; Charcot ; Marie ; Tooth neuropathy 1A ; Hereditary motor and sensory neuropathy ; Overlapping syndrome ; Double trouble

刊名：BMC Medical Genetics

出版年：2013

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