2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain 2021, 145: 208-223. PMID: 34382076, PMCID: PMC8967098, DOI: 10.1093/brain/awab299.Peer-Reviewed Original ResearchConceptsRetinitis pigmentosaNeurodegenerative disordersMovement disordersDe novo pathogenic variantsHypokinetic movement disordersCongenital disorderLong-term outcomesNeurodevelopmental disordersNovo pathogenic variantsNeuronal ceroid lipofuscinosisProgressive myoclonus epilepsyDisease courseNeurological declineClinical featuresProgressive encephalopathyPsychiatric disturbancesMyelinated fibersLarge cohortCortical tremorCognitive deteriorationDisease-causing variantsEndosomal-lysosomal pathwayAutosomal recessive formPathogenic variantsAltered lysosomes
1992
High endothelin-1 immunoreactivity in Crohn's disease and ulcerative colitis
Murch SH, Braegger CP, MacDonald T, Sessa W. High endothelin-1 immunoreactivity in Crohn's disease and ulcerative colitis. The Lancet 1992, 339: 381-385. PMID: 1346658, DOI: 10.1016/0140-6736(92)90077-g.Peer-Reviewed Original ResearchConceptsCrohn's disease patientsInflammatory bowel diseaseDisease patientsUlcerative colitisCrohn's diseaseBowel diseaseEndothelin-1Lamina propriaChronic inflammatory bowel diseaseEndothelin-1 immunoreactivitySubmucosal blood vesselsUlcerative colitis patientsTissue samplesUlcerative colitis groupEndothelin concentrationsImmunological hypersensitivityIntestinal ischaemiaColitis groupColitis patientsEndothelin productionInflammatory cellsPotent vasoconstrictorVascular abnormalitiesDisease groupImmunoreactive cells