1 - 25 of 101 results for author:"De Jonghe P." in Literature citations
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| Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. EMINet Consortium Epilepsia 54:265-271(2013) · Mapped (6) |
| Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. Van Langenhove T., van der Zee J., Gijselinck I., Engelborghs S., Vandenberghe R., Vandenbulcke M., De Bleecker J., Sieben A., Versijpt J., Ivanoiu A. et al. JAMA Neurol 70:365-373(2013) · Mapped (8) |
| Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Martin E., Schule R., Smets K., Rastetter A., Boukhris A., Loureiro J.L., Gonzalez M.A., Mundwiller E., Deconinck T., Wessner M. et al. Am. J. Hum. Genet. 92:238-244(2013) · Mapped (5) |
| Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. EPICURE Consortium Epilepsia 54:256-264(2013) · Mapped (8) |
| Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Zimon M., Baets J., Almeida-Souza L., De Vriendt E., Nikodinovic J., Parman Y., Battaloglu E., Matur Z., Guergueltcheva V., Tournev I. et al. Nat. Genet. 44:1080-1083(2012) · UniProtKB (1) |
| Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. Irobi J., Holmgren A., De Winter V., Asselbergh B., Gettemans J., Adriaensen D., Ceuterick-de Groote C., Van Coster R., De Jonghe P., Timmerman V. Neuromuscul. Disord. 22:699-711(2012) · Mapped (1) |
| KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Weckhuysen S., Mandelstam S., Suls A., Audenaert D., Deconinck T., Claes L.R., Deprez L., Smets K., Hristova D., Yordanova I. et al. Ann. Neurol. 71:15-25(2012) · Mapped (5) |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. Montenegro G., Rebelo A.P., Connell J., Allison R., Babalini C., D'Aloia M., Montieri P., Schule R., Ishiura H., Price J. et al. J. Clin. Invest. 122:538-544(2012) · UniProtKB (2) |
| Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Guergueltcheva V., Peeters K., Baets J., Ceuterick-de Groote C., Martin J.J., Suls A., De Vriendt E., Mihaylova V., Chamova T., Almeida-Souza L. et al. Neurology 77:2105-2114(2011) · Mapped (3) |
| Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Van Langenhove T., van der Zee J., Engelborghs S., Vandenberghe R., Santens P., Van den Broeck M., Mattheijssens M., Peeters K., Nuytten D., Cras P. et al. Neurobiol. Aging 33:1004.e17-20(2012) · Mapped (3) |
| Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Weber Y.G., Kamm C., Suls A., Kempfle J., Kotschet K., Schule R., Wuttke T.V., Maljevic S., Liebrich J., Gasser T. et al. |
| KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Riviere J.B., Ramalingam S., Lavastre V., Shekarabi M., Holbert S., Lafontaine J., Srour M., Merner N., Rochefort D., Hince P. et al. Am. J. Hum. Genet. 89:219-230(2011) · UniProtKB (1) · Mapped (2) |
| Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Zimon M., Baets J., Fabrizi G.M., Jaakkola E., Kabzinska D., Pilch J., Schindler A.B., Cornblath D.R., Fischbeck K.H., Auer-Grumbach M. et al. Neurology 77:540-548(2011) · Mapped (6) |
| De novo SCN1A mutations in migrating partial seizures of infancy. Carranza Rojo D., Hamiwka L., McMahon J.M., Dibbens L.M., Arsov T., Suls A., Stodberg T., Kelley K., Wirrell E., Appleton B. et al. Neurology 77:380-383(2011) · Mapped (7) |
| Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Mullen S.A., Marini C., Suls A., Mei D., Della Giustina E., Buti D., Arsov T., Damiano J., Lawrence K., De Jonghe P. et al. Arch. Neurol. 68:1152-1155(2011) · Mapped (6) |
| Molecular genetics of Dravet syndrome. De Jonghe P. Dev Med Child Neurol 53 Suppl 2:7-10(2011) · Mapped (7) |
| Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. Berciano J., Baets J., Gallardo E., Zimon M., Garcia A., Lopez-Laso E., Combarros O., Infante J., Timmerman V., Jordanova A. et al. J. Neurol. 258:1413-1421(2011) · Mapped (1) |
| Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Afawi Z., Suls A., Ekstein D., Kivity S., Neufeld M.Y., Oliver K., De Jonghe P., Korczyn A.D., Berkovic S.F. Epilepsia 51:2466-2469(2010) · UniProtKB (1) |
| Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Guelly C., Zhu P.P., Leonardis L., Papic L., Zidar J., Schabhuttl M., Strohmaier H., Weis J., Strom T.M., Baets J. et al. Am. J. Hum. Genet. 88:99-105(2011) · UniProtKB (1) · Mapped (2) |
| Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Rotthier A., Auer-Grumbach M., Janssens K., Baets J., Penno A., Almeida-Souza L., Van Hoof K., Jacobs A., De Vriendt E., Schlotter-Weigel B. et al. Am. J. Hum. Genet. 87:513-522(2010) · UniProtKB (1) |
| Mutations in SACS cause atypical and late-onset forms of ARSACS. Baets J., Deconinck T., Smets K., Goossens D., Van den Bergh P., Dahan K., Schmedding E., Santens P., Rasic V.M., Van Damme P. et al. Neurology 75:1181-1188(2010) · UniProtKB (1) |
| Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Deprez L., Weckhuysen S., Holmgren P., Suls A., Van Dyck T., Goossens D., Del-Favero J., Jansen A., Verhaert K., Lagae L. et al. Neurology 75:1159-1165(2010) · Mapped (6) |
| N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. Rakocevic-Stojanovic V., Milic-Rasic V., Peric S., Baets J., Timmerman V., Dierick I., Pavlovic S., De Jonghe P. J. Neurol. Sci. 296:107-109(2010) · Mapped (2) |
| Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Mullen S.A., Suls A., De Jonghe P., Berkovic S.F., Scheffer I.E. |
| Mutant HSPB8 causes motor neuron-specific neurite degeneration. Irobi J., Almeida-Souza L., Asselbergh B., De Winter V., Goethals S., Dierick I., Krishnan J., Timmermans J.P., Robberecht W., De Jonghe P. et al. Hum. Mol. Genet. 19:3254-3265(2010) · Mapped (1) |