Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Sarah Jesse"'
Autor:
Sarah Jesse, Hans-Peter Müller, Hans-Jürgen Huppertz, Stephanie Andres, Albert C. Ludolph, Michael Schön, Tobias M. Boeckers, Jan Kassubek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the disease is based on a heterozygous deletion of chromosome 22q13.3 with involvement of at least pa
Externí odkaz:
https://doaj.org/article/e2022822c14d4e5e9122df5ffd40a849
Autor:
Susanne Petri, Torsten Grehl, Julian Grosskreutz, Martin Hecht, Andreas Hermann, Sarah Jesse, Paul Lingor, Wolfgang Löscher, André Maier, Benedikt Schoser, Marcus Weber, Albert C. Ludolph
Publikováno v:
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-9 (2023)
Abstract Introduction In 2021, the Deutsche Gesellschaft für Neurology published a new guideline on diagnosis and therapy of motor neuron disorders. Motor neuron disorders affect upper motor neurons in the primary motor cortex and/or lower motor neu
Externí odkaz:
https://doaj.org/article/1f6564bb190a4f52a4d7dd7c48b71d34
Publikováno v:
Epilepsy & Behavior Reports, Vol 27, Iss , Pp 100697- (2024)
A 24-year-old female patient with pre-existing refractory epilepsy caused by tuberous sclerosis (TSC) and electroclinical features of Lennox-Gastaut syndrome (LGS) was referred to our hospital from an external clinic. Upon arrival, she presented with
Externí odkaz:
https://doaj.org/article/9c2aa7e982df4b3790c9997bf764a45c
Autor:
Berra Yildiz, Lisa Schiedt, Medhanie Mulaw, Jürgen Bockmann, Sarah Jesse, Anne-Kathrin Lutz, Tobias M. Boeckers
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal mu
Externí odkaz:
https://doaj.org/article/82daea9de3a9404887a4b162e1af44a5
Autor:
Veronika Klose, Sarah Jesse, Jan Lewerenz, Jan Kassubek, Johannes Dorst, Hayrettin Tumani, Albert C. Ludolph, Francesco Roselli
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionAmyotrophic Lateral Sclerosis (ALS) is characterized by progressive motoneuron degeneration through cell autonomous and non-cell autonomous mechanisms; and the involvement of the innate and adaptive immune system has been hypothesized bas
Externí odkaz:
https://doaj.org/article/8057869a355a4a4caba3270dfffe3ddd
Autor:
Sarah Jesse, Lukas Kuhlmann, Laura S. Hildebrand, Henriette Magelssen, Martina Schmaus, Beate Timmermann, Stephanie Andres, Rainer Fietkau, Luitpold V. Distel
Publikováno v:
Cells, Vol 12, Iss 5, p 820 (2023)
Phelan-McDermid syndrome is an inherited global developmental disorder commonly associated with autism spectrum disorder. Due to a significantly increased radiosensitivity, measured before the start of radiotherapy of a rhabdoid tumor in a child with
Externí odkaz:
https://doaj.org/article/51a785d98bda4e2984444beba593f772
Autor:
Sarah Jesse, Hans‐Peter Müller, Michael Schoen, Harun Asoglu, Juergen Bockmann, Hans‐Juergen Huppertz, Volker Rasche, Albert C. Ludolph, Tobias M. Boeckers, Jan Kassubek
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 46-58 (2020)
Abstract Objective Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual
Externí odkaz:
https://doaj.org/article/87eb5db2bd2045e083b594b2fcc12b32
Autor:
Sarah Jesse, Hanna Bayer, Marius C. Alupei, Martina Zügel, Medhanie Mulaw, Francesca Tuorto, Silke Malmsheimer, Karmveer Singh, Jürgen Steinacker, Uwe Schumann, Albert C. Ludolph, Karin Scharffetter-Kochanek, Anke Witting, Patrick Weydt, Sebastian Iben
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Abstract PGC-1α is a versatile inducer of mitochondrial biogenesis and responsive to the changing energy demands of the cell. As mitochondrial ATP production requires proteins that derive from translation products of cytosolic ribosomes, we asked wh
Externí odkaz:
https://doaj.org/article/2478132ea7814397b8b16d705aad350d
Autor:
Makbule Senel, Daniel Rapp, Benjamin Mayer, Sarah Jesse, Sigurd D. Süssmuth, Markus Otto, Jan Lewerenz, Hayrettin Tumani
Publikováno v:
Cells, Vol 9, Iss 10, p 2169 (2020)
To investigate whether and how cerebrospinal fluid (CSF) findings can contribute to distinguish tick-borne encephalitis (TBE) from herpes simplex virus (HSV) and varicella zoster virus (VZV) induced central nervous system (CNS) infections (HSV-I, VZV
Externí odkaz:
https://doaj.org/article/86b2a69f02714975a8800567a78d0f05
Autor:
Patrick Oeckl, Petra Steinacker, Stefan Lehnert, Sarah Jesse, Hans A Kretzschmar, Albert C Ludolph, Markus Otto, Boris Ferger
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32664 (2012)
BackgroundThe cyclic nucleotides cyclic adenosine-3',5'-monophosphate (cAMP) and cyclic guanosine-3',5'-monophosphate (cGMP) are important second messengers and are potential biomarkers for Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS
Externí odkaz:
https://doaj.org/article/3ca108ae1354458b855b29fa89919062