Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset

Autor: Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group

Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)

Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To asse

Externí odkaz: https://doaj.org/article/4c3b33ada73f4a84b5a8c6fca707bd4a

Mast Syndrome Outside the Amish Community: SPG21 in Europe

Autor: Matthias Amprosi, Elisabetta Indelicato, Wolfgang Nachbauer, Anna Hussl, Claudia Stendel, Andreas Eigentler, Constanze Gallenmüller, Sylvia Boesch, Thomas Klopstock

Publikováno v: Frontiers in Neurology, Vol 12 (2022)

Background:Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Jap

Externí odkaz: https://doaj.org/article/9ec4ca6506004ecfb07cd0474574dd22

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Autor: Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, Jean-Jacques Médard, Charles Petitpré, Mark A. Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C. Lai, Gian Giacomo Consalez, Alexandre Pattyn, Patrik Ernfors, Jan Senderek, Igor Adameyko, Francois Lallemend, Saida Hadjab, Roman Chrast

Publikováno v: Cell Reports, Vol 26, Iss 13, Pp 3484-3492.e4 (2019)

Summary: The sensation of pain is essential for the preservation of the functional integrity of the body. However, the key molecular regulators necessary for the initiation of the development of pain-sensing neurons have remained largely unknown. Her

Externí odkaz: https://doaj.org/article/8d3c2ac2ef91434cbeb5846bfc9c9928

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia

Autor: Demet Oender, Jennifer Faber, Carlo Wilke, Tamara Schaprian, Asadeh Lakghomi, David Mengel, Ludger Schöls, Andreas Traschütz, Zofia Fleszar, Claudia Dufke, Stefan Vielhaber, Judith Machts, Ilaria Giordano, Marcus Grobe‐Einsler, Thomas Klopstock, Claudia Stendel, Sylvia Boesch, Wolfgang Nachbauer, Dagmar Timmann‐Braun, Andreas Gustafsson Thieme, Christoph Kamm, Ales Dudesek, Chantal Tallaksen, Iselin Wedding, Alessandro Filla, Matthias Schmid, Matthis Synofzik, Thomas Klockgether

Publikováno v: Movement disorders 38(4), 654-664 (2023). doi:10.1002/mds.29324

Background: Sporadic adult-onset ataxias without known genetic or acquired cause are subdivided into multiple system atrophy of cerebellar type (MSA-C) and sporadic adult-onset ataxia of unknown etiology (SAOA). Objectives: To study the differential

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719b91ca7931ccf804c03da3c10683ee
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85147222444

Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

Autor: Albert C. Ludolph, Pavel Schischlevskij, Daniel Zeller, Martin Regensburger, Tim Hagenacker, Claudia Stendel, Ute Weyen, Thomas Klopstock, Benjamin Stolte, Ilka Schneider, Camilla Binz, Olivia Schreiber-Katz, Moritz Metelmann, Zacharias Kohl, Marcus Deschauer, Andreas Hermann, Joachim Wolf, Susanne Petri, Jan C. Koch, Matthias Boentert, Johannes Dorst, René Günther, Isabell Cordts, Paul Lingor, Ralf A. Linker, Alma Osmanovic, Lars H. Müschen, Carsten Schröter

Publikováno v: Brain Sciences; Volume 11; Issue 6; Pages: 748
Brain Sciences 11(6), 748-(2021). doi:10.3390/brainsci11060748
Brain Sciences, Vol 11, Iss 748, p 748 (2021)
Brain Sciences

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their health, perso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f15d5e215193127219c0c7dba04fdf
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/16745