Residual daytime sleepiness (RES) in CPAP-treated obstructive sleep apnea (OSA) patients in the European Sleep Apnea Database (ESADA)

Autor: Calogero Davide Giuseppe Barbera, Fabio Cibella, Francesco Fanfulla, Jean-Louis Pepin, Walter Mc Nicholas, Sophia Schiza, Tarja Saaresranta, Jan Hedner, Ludger Grote, Johan Verbraecken, Maria Rosaria Bonsignore On Behalf Of The Esada Study Group

Publikováno v: Sleep and control of breathing.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f491acb29f5e934ffc1eade78433ff27
https://doi.org/10.1183/13993003.congress-2021.pa2494

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Autor: Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R, Bettolo, CM, Barresi, R, Charlton, R, Boennemann, CG, Neto, OA, Reed, UC, Zanoteli, E, Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges Da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, RP, Thiele, S, Mueller, J, Kingston, H, Mueller, S, Curtis, E, Walter, MC, Strom, T, Straub, V, Bushby, K, Muntoni, F, Swan, LE, Lochmueller, H, Senderek, J

Publikováno v: Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, C G, Abath Neto, O, Reed, U C, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, R P, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, M C, Strom, T M, Straub, V, Bushby, K, Muntoni, F, Swan, L E, Lochmüller, H & Senderek, J 2017, ' Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment ', American Journal of Human Genetics, vol. 100, no. 3, pp. 523-536 . https://doi.org/10.1016/j.ajhg.2017.01.024
American Journal of Human Genetics

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0682e787e901e932f48d2c10fd006e05

Determinants of daytime sleepiness in mild obstructive sleep apnoea syndrome. Data from the European Sleep Apnoea Database (ESADA) cohort study

Autor: Richard Staats, Marrone Oreste, Johan Verbraecken, Izolde Bouloukaki, Carolina Lombardi, Zoran Dogas, Holger Holger, Paschalis Steiropoulos, Walter Mc Nicholas, Ozen K. Basoglu, Gianfranco Parati, Athanasia Pataka, Sophia E. Schiza, Ludger Grote, Thomas Penzel, Maria R. Bonsignore, Jan Hedner

Publikováno v: Sleep and control of breathing.

Background: Available studies show an overall poor correlation between sleep characteristics and symptoms profile in mild obstructive sleep apnoea (OSA) patients. Aim of the study was to explore the relationship of daytime sleepiness, as assessed by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0e0b30560630a591a5ffcfc14d41c8
https://doi.org/10.1183/13993003.congress-2018.pa425

Erkrankungsmarker bei der Charcot-Marie-Tooth Erkrankung 1A

Autor: Fledrich, R, Schnizer, T, Schlotter-Weigel, B, Schneiderat, P, Weiss, BG, Meyer zu Hörste, G, Stassart, RM, Brinkmann, BG, Walter, MC, Rautenstrauss, B, Paulus, W, Rossner, MJ, Nave, KA, Sereda, M

Publikováno v: Aktuelle Neurologie; 20240101, Issue: Preprints

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