Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
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- Mandich Paola MANDICH Paola
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- Grandis Marina GRANDIS Marina
- Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology and Neurological Rehabilitation, University of Genova
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- Geroldi Alessandro [他] GEROLDI Alessandro
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- ACQUAVIVA Massimo
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- VARESE Alessandra
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- GULLI Rossella
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- CIOTTI Paola
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- BELLONE Emilia
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
この論文をさがす
著者
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- Mandich Paola MANDICH Paola
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- Grandis Marina GRANDIS Marina
- Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology and Neurological Rehabilitation, University of Genova
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- Geroldi Alessandro [他] GEROLDI Alessandro
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- ACQUAVIVA Massimo
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- VARESE Alessandra
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- GULLI Rossella
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- CIOTTI Paola
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
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- BELLONE Emilia
- Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
収録刊行物
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- Journal of human genetics
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Journal of human genetics 53(6), 529-533, 2008-06-01
Springer Japan
参考文献: 29件中 1-29件 を表示
-
1
- Central visual, acoustic and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn250-Ser mutation in the connexin 32 gene
-
BAHR M
J Neurol Neurosurg Psychiatry 66, 202-206, 1999
被引用文献1件
-
2
- Connexin32 and X-linked Charcot-Marie-Tooth disease
-
BONE LJ
Neurobiol Dis 4, 221-230, 1997
被引用文献1件
-
3
- Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type I in Spanish population
-
CASASNOVAS C
Clin Genet 70, 516-523, 2006
被引用文献1件
-
4
- Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
FAIRWEATHER N
Hum Mol Genet 3(1), 29-34, 1994
被引用文献1件
-
5
- Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195
-
FLAGIELLO L
Hum Mutat 12(5), 361, 1998
被引用文献1件
-
6
- Unusual electrophysiological findings in X-linked Charcot-Marie-Tooth disease
-
GUTIERREZ A
Muscle Nerve 23, 182-188, 2000
被引用文献1件
-
7
- Third workshop of the European CMT consortium : 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands
-
HAITES NE
Neuromuscul Disord 8, 591-603, 1998
被引用文献1件
-
9
- Charcot-Marie-Tooth neuropathy : from clinical description to molecular genetics
-
IONASESCU VV
Muscle Nerve 18, 267-275, 1995
被引用文献1件
-
10
- Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
-
IONASESCU V
Am J Med Genet 63, 486-491, 1996
被引用文献1件
-
11
- Molecular genetics of X-linked Charcot-Marie-Tooth disease
-
KLEOPA KA
Neuro Molecu Med 8, 107-122, 2006
被引用文献1件
-
12
- Molecular genetic analysis of the GJB1 gene : a study of six mutations
-
KOCHANSKI A
J Appl Genet 45, 95-100, 2004
被引用文献1件
-
13
- Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication
-
LATOUR P
Clin Chem 47, 829-837, 2001
被引用文献1件
-
14
- Electrophysiological features of inherited demyelinating neuropathies : a reappraisal in the era of molecular diagnosis
-
LEWIS RA
Muscle Nerve 23, 1472-1487, 2000
被引用文献1件
-
15
- Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
-
MERSIYANOVA IV
Hum Mutat 15, 340-347, 2000
被引用文献1件
-
16
- Charcot-Marie-Tooth disease type I and related demyelinating neuropathies : mutation analysis in a large cohort of Italian families
-
MOSTACCIOLO ML
Hum Mutat 18, 32-41, 2001
被引用文献1件
-
17
- Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study
-
NELIS E
Eur J Hum Genet 4, 25-33, 1996
被引用文献1件
-
18
- Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses
-
NICHOLSON G
J Neurol Neurosurg Psychiatry 61(1), 43-46, 1996
被引用文献1件
-
19
- Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
-
NICHOLSON G
Neurology 43(12), 2558-2564, 1993
被引用文献1件
-
20
- Connexin 32 is a myelin-related protein in the PNS and CNS
-
SCHERER SS
J Neurosci 15, 8281-8294, 1995
被引用文献1件
-
21
- Connexin 32-null mice develop a demyelinating peripheral neuropathy
-
SCHERER SS
Glia 24, 8-20, 1998
被引用文献1件
-
22
- Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
SCHIAVON F
Hum Mutat 8(1), 83-84, 1996
被引用文献1件
-
23
- Charcot-Marie-Tooth type X : a novel mutation in the Cx32 gene with central conduction slowing
-
SEEMAN P
Int J Mol Med 8, 461-468, 2001
被引用文献1件
-
24
- CMT1X phenotypes represent loss of GJB1 gene function
-
SHY ME
Neurology 68, 849-855, 2007
被引用文献1件
-
25
- The CNS phenotype of X-linked Charcot-Marie-Tooth disease : more than a peripheral problem
-
TAYLOR RA
Neurology 61, 1475-1478, 2003
被引用文献1件
-
26
- A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
-
VAZZA G
Neuromuscul Disord 16, 878-881, 2006
被引用文献1件
-
27
- Functional gap junctions in the Schwann cell myelin sheath
-
BALICE-GORDON R. J.
J Cell Biol 142, 1095-1104, 1998
被引用文献2件
-
28
- Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
BERGOFFEN J.
Science 262, 2039-2042, 1993
DOI 被引用文献26件
-
29
- Electrodiagnostic findings in CMTX : a disorder of the Schwann cell and peripheral nerve myelin
-
LEWIS RA
Ann NY Acad Sci 883, 504-507, 1999
被引用文献1件