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Wiley电子期刊(3)
SpringerLink电子期刊(33)
Elsevier电子期刊(57)
ACS电子期刊(2)
在“
SpringerLink电子期刊
”中,
命中:
33
条,耗时:小于0.01 秒
在所有数据库中总计命中:
95
条
1.
Nonrecurrent
PMP22
-
RAI1
contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
作者:
Bo Yuan
;
Juanita Neira
;
Shen Gu
;
Tamar Harel
;
Pengfei Liu…
刊名:Human Genetics
出版年:2016
2.
PMP22
related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
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
3.
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases
作者:
Elena Sinkiewicz-Darol (1)
Andressa Ferreira Lacerda (2)
Anna Kostera-Pruszczyk (3)
Anna Potulska-Chromik (3)
Beata Soko艂owska (1) (4)
Dagmara Kabzi艅ska (1)
Craig R. Brunetti (2)
Irena Hausmanowa-Petrusewicz (1)
Andrzej Kocha艅ski (1)
关键词:
LITAF
;
Charcot
;
Marie
;
Tooth disease type 1A
;
Gene dosage
;
Biomarkers
刊名:neurogenetics
出版年:2015
4.
Evolution of Charcot–Marie–Tooth disease type 1A
duplication
: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study
作者:
Ana L. Pelayo-Negro (1)
Elena Gallardo (2)
Antonio García (3)
Pascual Sánchez-Juan (1)
Jon Infante (1)
José Berciano (1)
关键词:
Charcot–Marie–Tooth disease type 1A
;
CMTNS
;
Hand
;
held dynamometry
;
Electrophysiology
;
Functional disability scale
;
MRI
;
Muscle fatty atrophy
;
Muscle edema
;
PMP22
duplication
刊名:Journal of Neurology
出版年:2014
5.
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
作者:
Shahram Attarian (1)
Jean-Michel Vallat (3)
Laurent Magy (3)
Beno卯t Funalot (3)
Pierre-Marie Gonnaud (4)
Arnaud Lacour (5)
Yann P茅r茅on (6)
Odile Dubourg (7)
Jean Pouget (1)
Jo毛lle Micallef (2)
J茅r么me Franques (1)
Marie-No毛lle Lefebvre (2)
Karima Ghorab (3)
Mahmoud Al-Moussawi (4)
Vincent Tiffreau (5)
Marguerite Preudhomme (5)
Armelle Magot (6)
Laur猫ne Leclair-Visonneau (5)
Tanya Stojkovic (7)
Laura Bossi (8)
Philippe Lehert (10) (9)
Walter Gilbert (11)
Viviane Bertrand (12)
Jonas Mandel (12)
Aude Milet (12)
Rodolphe Hajj (12)
Lamia Boudiaf (12)
Catherine Scart-Gr猫s (12)
Serguei Nabirotchkin (12)
Mickael Guedj (12)
Ilya Chumakov (12)
Daniel Cohen (12)
1. Centre de r茅f茅rence des maladies neuromusculaires et de la SLA
;
P么le des neurosciences Cliniques
;
AP-HM et Aix Marseille Universit茅
;
Marseille
;
France
3. CHU de Limoges - H么pital Dupuytren
;
2 Avenue Martin Luther King
;
87042
;
Limoges
;
France
4. CHU Lyon Sud
;
165 Chemin du Grand Revoyet
;
69495
;
Lyon
;
France
5. CHRU de Lille - H么pital Roger Salengro
;
rue Emile Laine
;
59037
;
Lille
;
France
6. CHU de Nantes - H么tel Dieu
;
1 place Alexis Ricordeau
;
44093
;
Nantes
;
France
7. CHU de Paris - Groupe Hospitalier Piti茅-Salp茅tri猫re
;
47-83 boulevard de l鈥橦么pital
;
75013
;
Paris
;
France
2. CIC-Centre de Pharmacologie Clinique et D鈥橢valuations Therapeutiques
;
AP-HM et Aix Marseille Universit茅
;
Marseille
;
France
8. Admissions
;
75017
;
Paris
;
France
10. Faculty of Economics
;
UCL Mons
;
Louvain
;
Belgium
9. Faculty of Medicine
;
The University of Melbourne
;
Grattan St
;
Melbourne
;
VIC 3010
;
Australia
11. Carl M. Loeb University Professor Emeritus
;
Harvard University
;
Cambridge
;
MA
;
02138
;
USA
12. Pharnext
;
11
;
rue des Peupliers
;
92130 Issy-Les-Moulineaux
;
Paris
;
France
关键词:
Charcot
;
Marie
;
Tooth
;
CMT1A
;
Clinical trial
;
Phase 2
;
Repurposing
;
Combination therapy
刊名:Orphanet Journal of Rare Diseases
出版年:2014
6.
New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A
duplication
作者:
José Berciano (1) jaberciano@humv.es
Elena Gallardo (2)
Antonio García (3)
Ana L. Pelayo-Negro (1)
Jon Infante (1)
Onofre Combarros (1)
关键词:
Charcot–Marie–Tooth disease – Clawed hallux – MRI – Nerve conduction studies –
PMP22
duplication
– Pes cavus – Toe clawing
刊名:Journal of Neurology
出版年:2011
7.
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
作者:
Rune ?stern (1) (2)
Toril Fagerheim (1)
Helene Hjellnes (1)
Bj?rn Nyg?rd (1)
Svein I Mellgren (2) (3)
?ivind Nilssen (1) (2)
关键词:
Charcot
;
Marie
;
Tooth
;
Genetic and inherited disorders
;
Neuromuscular diseases
;
Mutation analysis
;
Clinical neurophysiology
;
Guidelines
刊名:BMC Medical Genetics
出版年:2013
8.
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
9.
Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation
作者:
Shoko Tokunaga (1)
Akihiro Hashiguchi (1)
Akiko Yoshimura (1)
Kengo Maeda (2)
Takashi Suzuki (3)
Hiroyo Haruki (4)
Tomonori Nakamura (1)
Yuji Okamoto (1)
Hiroshi Takashima (15) thiroshi@m3.kufm.kagoshima-u.ac.jp
关键词:
Charcot–Marie–Tooth disease – Periaxin gene mutation – Adult onset – Demyelinating neuropathy
刊名:neurogenetics
出版年:2012
10.
Clinical progression in Charcot¨CMarie-Tooth disease type 1A
duplication
: clinico-electrophysiological and MRI longitudinal study of a family
作者:
Jos¨¦ Berciano
;
Elena Gallardo
;
Antonio Garc¨ªa
;
C¨¦sar Ram¨®n
;
Jon Infante and Onofre Combarros
关键词:
Charcot–
;
Marie
;
Tooth disease
;
Electromyography
;
Magnetic resonance imaging
;
Nerve conduction velocity
;
PMP22
duplication
刊名:Journal of Neurology
出版年:2010
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