2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL, Consortium A, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S, Afawi Z, Baulac S, Barisic N, Caglayan H, Craiu D, De Kovel C, Lopez R, Guerrini R, Hjalgrim H, Lerche H, Jahn J, Klein K, Koeleman B, Leguern E, Lemke J, Marini C, Muhle H, Rosenow F, Serratosa J, Štěrbová K, Møller R, Palotie A, Striano P, Weber Y, Zara F. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 2016, 139: 2420-2430. PMID: 27435091, PMCID: PMC4995362, DOI: 10.1093/brain/aww180.Peer-Reviewed Original ResearchConceptsProgressive neurological declineEarly-onset refractory seizuresHomozygous missense variantEarly-onset parkinsonismRefractory seizuresNeurological declineOnset parkinsonismNeurodegenerative disease courseAdditional pathogenic variantsMissense variantsDifferent neurological diseasesHomozygous nonsense variantDual phosphatase activityDisease courseRefractory epilepsyTau pathologyClinical spectrumIntractable epilepsySevere epilepsySeizure pathophysiologySynaptic dysregulationLarge cohortSingle patientNeurological diseasesEpilepsy
2001
Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome
Berghs S, Ferracci F, Maksimova E, Gleason S, Leszczynski N, Butler M, De Camilli P, Solimena M. Autoimmunity to βIV spectrin in paraneoplastic lower motor neuron syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2001, 98: 6945-6950. PMID: 11391009, PMCID: PMC34458, DOI: 10.1073/pnas.121170798.Peer-Reviewed Original ResearchConceptsLower motor neuron syndromeMotor neuron syndromeParaneoplastic neurological disordersAxons of motoneuronsSevere neurological diseaseAxon initial segmentNodes of RanvierAutoimmune pathogenesisAutoimmune targetNeurological symptomsBreast cancerPartial improvementNeurological diseasesAffected neuronsNeurological disordersSyndromeAutoantibodiesCancer removalCancer cellsBetaIV spectrinAutoimmunityMajor targetSurface epitopesPathogenesisAxons
1999
Amphiphysin and Breast Cancer
DeCamilli P. Amphiphysin and Breast Cancer. 1999 DOI: 10.21236/ada383728.Peer-Reviewed Original ResearchBreast cancerWestern blottingStiff-man syndromeBreast cancer patientsBreast cancer cell linesLarge case loadsNon-neuronal tissuesOccult neoplasiaCancer cell linesCancer patientsNerve terminal proteinLow-level expressionBreast tumorsNeurological diseasesAutoantibodiesPatientsCancerAmphiphysin ICase loadRT-PCREnhanced expressionCell linesIntracellular signalingBlottingCyclin-dependent kinase gene family
1998
Amphiphysin and Breast Cancer
DeCamilli P. Amphiphysin and Breast Cancer. 1998 DOI: 10.21236/ada363483.Peer-Reviewed Original ResearchStiff-man syndromeBreast cancerNeuronal proteinsAutoimmune paraneoplastic syndromeBreast cancer patientsHuman breast cancer cell linesBreast cancer cell linesCentral nervous systemRole of amphiphysinCancer cell linesParaneoplastic syndromeCancer patientsNew patientsEarly diagnosisProgressive rigidityRare diseaseNervous systemNeurological diseasesAutoimmunityPatientsDiagnostic proceduresCancerSyndromeCancer cellsKinase Cdk5