19 results for author:"Vandenberghe A." in Literature citations
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| SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. Latour P., Gonnaud P.M., Ollagnon E., Chan V., Perelman S., Stojkovic T., Stoll C., Vial C., Ziegler F., Vandenberghe A. et al. J. Peripher. Nerv. Syst. 11:148-155(2006) · Mapped (1) |
| Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. Stojkovic T., Latour P., Viet G., de Seze J., Hurtevent J.F., Vandenberghe A., Vermersch P. Neuromuscul. Disord. 14:261-264(2004) · Mapped (6) |
| Ascidian larva reveals ancient origin of vertebrate-skeletal-muscle troponin I characteristics in chordate locomotory muscle. Cleto C.L., Vandenberghe A.E., MacLean D.W., Pannunzio P., Tortorelli C., Meedel T.H., Satou Y., Satoh N., Hastings K.E. Mol. Biol. Evol. 20:2113-2122(2003) · UniProtKB (1) |
| Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. Vandenberghe N., Upadhyaya M., Gatignol A., Boutrand L., Boucherat M., Chazot G., Vandenberghe A., Latour P. J. Med. Genet. 39:e81-e81(2002) · Mapped (4) |
| Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L. et al. Am. J. Hum. Genet. 70:726-736(2002) · UniProtKB (1) · Mapped (19) |
| mRNA 5'-leader trans-splicing in the chordates. Vandenberghe A.E., Meedel T.H., Hastings K.E. Genes Dev. 15:294-303(2001) · UniProtKB (6) |
| Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients. Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P., Vandenberghe A., Battaloglu E. Clin. Genet. 58:396-402(2000) · UniProtKB (2) |
| A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. Morle L., Bozon M., Alloisio N., Latour P., Vandenberghe A., Plauchu H., Collet L., Edery P., Godet J., Lina-Granade G. J. Med. Genet. 37:368-370(2000) · UniProtKB (1) |
| Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. Latour P., Levy N., Paret M., Chapon F., Chazot G., Clavelou P., Couratier P., Dumas R., Ollagnon E., Pouget J. et al. Neurogenetics 1:117-123(1997) · UniProtKB (1) |
| Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. Lagueny A., Latour P., Vital A., Rajabally Y., Le Masson G., Ferrer X., Bernard I., Julien J., Vital C., Vandenberghe A. Neuromuscul. Disord. 9:361-367(1999) · UniProtKB (1) |
| Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A. J. Neurol. Neurosurg. Psych. 66:779-782(1999) · UniProtKB (1) |
| Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Besancon R., Lorenzi A., Cruts M., Radawiec S., Sturtz F., Broussolle E., Chazot G., van Broeckhoven C., Chamba G., Vandenberghe A. Hum. Mutat. 11:481-481(1998) · UniProtKB (1) |
| New mutations in the X-linked form of Charcot-Marie-Tooth disease. Latour P., Fabreguette A., Ressot C., Blanquet-Grossard F., Antoine J.-C., Calvas P., Chapon F., Corbillon E., Ollagnon E., Sturtz F. et al. Eur. Neurol. 37:38-42(1997) · UniProtKB (1) |
| Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po. Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., Diraison P., Chapon F., Chazot G., Vandenberghe A. Hum. Mutat. 8:185-186(1996) · UniProtKB (1) |
| Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C., Corbillon E., Chazot G., Vandenberghe A. Clin. Genet. 48:281-283(1995) · UniProtKB (1) |
| X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. Ressot C., Latour P., Blanquet-Grossard F., Sturtz F., Duthel S., Battin J., Corbillon E., Ollagnon E., Serville F., Vandenberghe A. et al. Hum. Genet. 98:172-175(1996) · UniProtKB (1) |
| Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Latour P., Blanquet F., Nelis E., Bonnebouche C., Chapon F., Diraison P., Ollagnon E., Dautigny A., Pham-Dinh D., Chazot G. et al. |
| Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Nelis E., Timmerman V., de Jonghe P., Vandenberghe A., Pham-Dinh D., Dautigny A., Martin J.-J., van Broeckhoven C. Hum. Genet. 94:653-657(1994) · UniProtKB (1) |
| The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23. Pham-Dinh D., Fourbil Y., Blanquet F., Mattei M.-G., Roeckel N., Latour P., Chazot G., Vandenberghe A., Dautigny A. Hum. Mol. Genet. 2:2051-2054(1993) · UniProtKB (1) |