Bereich
Muskelzentrum | ALS Clinic
MUSKEL · Dept. III
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype
Jackson C, Neuwirth C, Hahn D, Nuoffer J, Frank S, Gallati S, Schaller A. Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. Br J Ophthalmol 2014; 98:1453-9.
17.07.2014Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype
17.07.2014Br J Ophthalmol 2014; 98:1453-9
Jackson Christopher B, Neuwirth Christoph, Hahn Dagmar, Nuoffer J-M, Frank Stephan, Gallati Sabina, Schaller André
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis
Diekstra F, Meininger V, Shatunov A, Shaw C, Leigh P, Shaw P, Morrison K, Fogh I, Chio A, Traynor B, Czell D, Weber M, Heutink P, de Bakker P, Silani V, Robberecht W, van den Berg L, Melki J, Van Damme P, Van Deerlin V, van Swieten J, Al-Chalabi A, Ludolph A, Weishaupt J, Hardiman O, Landers J, Brown R, van Es M, Pasterkamp R, Koppers M, Andersen P, Estrada K, Rivadeneira F, Hofman A, Uitterlinden A, Veldink J. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014; 76:120-33.
27.06.2014C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis
27.06.2014Ann Neurol 2014; 76:120-33
Diekstra Frank P, Meininger Vincent, Shatunov Aleksey, Shaw Christopher E, Leigh P Nigel, Shaw Pamela J, Morrison Karen E, Fogh Isabella, Chio Adriano, Traynor Bryan J, Czell David, Weber Markus, Heutink Peter, de Bakker Paul I W, Silani Vincenzo, Robberecht Wim, van den Berg Leonard H, Melki Judith, Van Damme Philip, Van Deerlin Vivianna M, van Swieten John C, Al-Chalabi Ammar, Ludolph Albert C, Weishaupt Jochen H, Hardiman Orla, Landers John E, Brown Robert H, van Es Michael A, Pasterkamp R Jeroen, Koppers Max, Andersen Peter M, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden André G, Veldink Jan H
What do ALS patients die of? – An autopsy study of 70 ALS patients
Burkhardt C (2014). What do ALS patients die of? – An autopsy study of 70 ALS patients. Präsentiert bei: European Network for the Cure of ALS (ENCALS), Leuven 2014
24.05.2014What do ALS patients die of? – An autopsy study of 70 ALS patients
24.05.2014European Network for the Cure of ALS (ENCALS)
Burkhardt Christian
Harmonisation of cognitive screening for ALS in Europe
Abrahams S, Weber M, Lule D, Hardiman O, Ludolph A, Silani V, Van den Bergh L, Newton J, Niven E, Bak T, Burkhardt C (2014). Harmonisation of cognitive screening for ALS in Europe.
22.05.2014Harmonisation of cognitive screening for ALS in Europe
22.05.2014ENCALS
Abrahams Sharon, Weber Markus, Lule Dorotheé, Hardiman Orla, Ludolph Albert, Silani Vincenzo, Van den Bergh Leonard, Newton J., Niven E, Bak Thomas, Burkhardt Christian
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Kubisch C, de Carvalho M, Lloyd-Jani A, Konno T, DeJesus-Hernandez M, Angerbauer S, Daoud H, Just W, Tradowsky D, Mouzat K, Landers J, Veldink J, Andersen P, Rademakers R, Van Broeckhoven C, van den Berg L, Rouleau G, Shaw C, Gitler A, Silani V, Nordin A, Calini D, Birve A, Onodera O, Neitzel B, Camu W, Lumbroso S, Leblond C, Van den Broeck M, van Blitterswijk M, Volk A, van Rheenen W, Pinto S, Weber M, Alstermark H, van der Zee J, Ratti A, Chesi A, Keagle P, Talbot K, Proven M, Smith B, Akimoto C. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 2014; 51:419-24.
04.04.2014A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
04.04.2014J Med Genet 2014; 51:419-24
Kubisch Christian, de Carvalho Mamede, Lloyd-Jani Anjali, Konno Takuya, DeJesus-Hernandez Mariely, Angerbauer Sabrina, Daoud Hussein, Just Walter, Tradowsky Daniela C, Mouzat Kevin, Landers John E, Veldink Jan H, Andersen Peter M, Rademakers Rosa, Van Broeckhoven Christine, van den Berg Leonard H, Rouleau Guy A, Shaw Christopher E, Gitler Aaron D, Silani Vincenzo, Nordin Angelica, Calini Daniela, Birve Anna, Onodera Osamu, Neitzel Birgit, Camu William, Lumbroso Serge, Leblond Claire S, Van den Broeck Marleen, van Blitterswijk Marka, Volk Alexander E, van Rheenen Wouter, Pinto Susana, Weber Markus, Alstermark Helena, van der Zee Julie, Ratti Antonia, Chesi Alessandra, Keagle Pamela, Talbot Kevin, Proven Melanie, Smith Bradley, Akimoto Chizuru
Synthesis and Preliminary Evaluation of a 2-Oxoquinoline Carboxylic Acid Derivative for PET Imaging the Cannabinoid Type 2 Receptor
Mu L, Slavik R, Müller A, Popaj K, Cermak S, Weber M, Schibli R, Krämer S, Ametamey S. Synthesis and Preliminary Evaluation of a 2-Oxoquinoline Carboxylic Acid Derivative for PET Imaging the Cannabinoid Type 2 Receptor. Pharmaceuticals (Basel) 2014; 7:339-52.
06.03.2014Synthesis and Preliminary Evaluation of a 2-Oxoquinoline Carboxylic Acid Derivative for PET Imaging the Cannabinoid Type 2 Receptor
06.03.2014Pharmaceuticals (Basel) 2014; 7:339-52
Mu Linjing, Slavik Roger, Müller Adrienne, Popaj Kasim, Cermak Stjepko, Weber Markus, Schibli Roger, Krämer Stefanie D, Ametamey Simon M
Development and evaluation of novel PET tracers for imaging cannabinoid receptor type 2 in brain
Slavik R, Bieri D, Cermak S, Müller A, Krämer S, Weber M, Schibli R, Ametamey S, Mu L. Development and evaluation of novel PET tracers for imaging cannabinoid receptor type 2 in brain. Chimia (Aarau) 2014; 68:208-10.
01.01.2014Development and evaluation of novel PET tracers for imaging cannabinoid receptor type 2 in brain
01.01.2014Chimia (Aarau) 2014; 68:208-10
Slavik Roger, Bieri Daniel, Cermak Stjepko, Müller Adrienne, Krämer Stefanie D, Weber Markus, Schibli Roger, Ametamey Simon M, Mu Linjing
Validation of the German version of the Edinburgh Cognitive Assessment (ECAS) in Amyotrophic lateral sclerosis
Burkhardt C (2013). Validation of the German version of the Edinburgh Cognitive Assessment (ECAS) in Amyotrophic lateral sclerosis - Dorothée Lulé *, Christian Burkhardt*, Sarah Böhm, Katharina Kneer, Katja Kollewe, Susanne Abdullah, Susanne Petri, Markus Weber, Albert C Ludolph. Präsentiert bei: ENCALS Meeting, 24 th International Symposium on ALS/MND, Mailand
05.12.2013Validation of the German version of the Edinburgh Cognitive Assessment (ECAS) in Amyotrophic lateral sclerosis
05.12.2013ENCALS Meeting, 24 th International Symposium on ALS/MND
Burkhardt Christian
Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
Rosenbohm A, Ludolph A, Weishaupt J, Andersen P, Weber M, Huppertz H, Kubisch C, Volk A, Marroquin N, Weydt P, Kassubek J, ALS Schwaben Register Group. Can lesions to the motor cortex induce amyotrophic lateral sclerosis?. J Neurol 2013; 261:283-90.
20.11.2013Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
20.11.2013J Neurol 2013; 261:283-90
Rosenbohm Angela, Ludolph Albert C, Weishaupt Jochen H, Andersen Peter M, Weber Markus, Huppertz Hans-Jürgen, Kubisch Christian, Volk Alexander E, Marroquin Nicolai, Weydt Patrick, Kassubek Jan, ALS Schwaben Register Group
Finding their voices again: a media project offers a floor for vulnerable patients, clients and the socially deprived
Stutzki R, Weber M, Reiter-Theil S. Finding their voices again: a media project offers a floor for vulnerable patients, clients and the socially deprived. Med Health Care Philos 2013; 16:739-50.
01.11.2013Finding their voices again: a media project offers a floor for vulnerable patients, clients and the socially deprived
01.11.2013Med Health Care Philos 2013; 16:739-50
Stutzki Ralf, Weber Markus, Reiter-Theil Stella
Attitudes towards hastened death in ALS: A prospective study of patients and family caregivers
Stutzki R, Weber M, Reiter-Theil S, Simmen U, Borasio G, Jox R. Attitudes towards hastened death in ALS: A prospective study of patients and family caregivers. Amyotroph Lateral Scler Frontotemporal Degener 2013
26.09.2013Attitudes towards hastened death in ALS: A prospective study of patients and family caregivers
26.09.2013Amyotroph Lateral Scler Frontotemporal Degener 2013
Stutzki Ralf, Weber Markus, Reiter-Theil Stella, Simmen Urs, Borasio Gian Domenico, Jox Ralf J
Radiolabeling and in vitro /in vivo evaluation of N-(1-adamantyl)-8-methoxy-4-oxo-1-phenyl-1,4-dihydroquinoline-3-carboxamide as a PET probe for imaging cannabinoid type 2 receptor
Mu L, Krämer S, Schibli R, Weber M, Cermak S, Müller A, Drandarov K, Slavik R, Bieri D, Ametamey S. Radiolabeling and in vitro /in vivo evaluation of N-(1-adamantyl)-8-methoxy-4-oxo-1-phenyl-1,4-dihydroquinoline-3-carboxamide as a PET probe for imaging cannabinoid type 2 receptor. J Neurochem 2013; 126:616-24.
19.07.2013Radiolabeling and in vitro /in vivo evaluation of N-(1-adamantyl)-8-methoxy-4-oxo-1-phenyl-1,4-dihydroquinoline-3-carboxamide as a PET probe for imaging cannabinoid type 2 receptor
19.07.2013J Neurochem 2013; 126:616-24
Mu Linjing, Krämer Stefanie D, Schibli Roger, Weber Markus, Cermak Stjepko, Müller Adrienne, Drandarov Konstantin, Slavik Roger, Bieri Daniel, Ametamey Simon M
The Motor Unit Number Index (MUNIX) in sarcopenic patients
Drey M, Grösch C, Neuwirth C, Bauer J, Sieber C. The Motor Unit Number Index (MUNIX) in sarcopenic patients. Exp Gerontol 2013; 48:381-4.
31.01.2013The Motor Unit Number Index (MUNIX) in sarcopenic patients
31.01.2013Exp Gerontol 2013; 48:381-4
Drey M, Grösch C, Neuwirth Christoph, Bauer J M, Sieber C C
The Motor Unit Number Index (MUNIX) - A New Electrophysiological Marker to Estimate the Number of Motor Neurons: A Literature Review. 2013 Jan 29
Neuwirth C, Weber M. The Motor Unit Number Index (MUNIX) - A New Electrophysiological Marker to Estimate the Number of Motor Neurons: A Literature Review. 2013 Jan 29. Klinische Neurophysiologie 2013; Epub ahead of print
29.01.2013The Motor Unit Number Index (MUNIX) - A New Electrophysiological Marker to Estimate the Number of Motor Neurons: A Literature Review. 2013 Jan 29
29.01.2013Klinische Neurophysiologie 2013; Epub ahead of print
Neuwirth Christoph, Weber Markus
Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations
Czell D, Andersen P, Morita M, Neuwirth C, Perren F, Weber M. Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations. Neurodegener Dis 2013; 12:150-5.
10.01.2013Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations
10.01.2013Neurodegener Dis 2013; 12:150-5
Czell D, Andersen P M, Morita M, Neuwirth Christoph, Perren F, Weber Markus
Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene
Czell D, Andersen P, Neuwirth C, Morita M, Weber M. Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene. Amyotroph Lateral Scler Frontotemporal Degener 2013; 14:138-40.
03.01.2013Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene
03.01.2013Amyotroph Lateral Scler Frontotemporal Degener 2013; 14:138-40
Czell David, Andersen Peter M, Neuwirth Christoph, Morita Mitsuya, Weber Markus
Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation
Czell D, Abicht A, Hench J, Weber M. Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation. BMJ Case Rep 2012; 2012
06.12.2012Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation
06.12.2012BMJ Case Rep 2012; 2012
Czell David, Abicht Angela, Hench Jürgen, Weber Markus
[The head-up-orthosis - a good solution for ambulant patients with Dropped-head-syndrome]
Czell D, Weber M. [The head-up-orthosis - a good solution for ambulant patients with Dropped-head-syndrome]. Praxis (Bern 1994) 2012; 101:1499-502.
14.11.2012[The head-up-orthosis - a good solution for ambulant patients with Dropped-head-syndrome]
14.11.2012Praxis (Bern 1994) 2012; 101:1499-502
Czell D, Weber Markus
Outcome of Percutaneous Endoscopic Gastrostomy Tube Insertion in Respiratory Impaired Amyotrophic Lateral Sclerosis Patients Under Non-Invasive Ventilation
Czell D, Bauer M, Binek J, Schoch O, Weber M. Outcome of Percutaneous Endoscopic Gastrostomy Tube Insertion in Respiratory Impaired Amyotrophic Lateral Sclerosis Patients Under Non-Invasive Ventilation. Respir Care 2012
26.10.2012Outcome of Percutaneous Endoscopic Gastrostomy Tube Insertion in Respiratory Impaired Amyotrophic Lateral Sclerosis Patients Under Non-Invasive Ventilation
26.10.2012Respir Care 2012
Czell David, Bauer Matthias, Binek Janek, Schoch Otto, Weber Markus
Attitudes Toward Assisted Suicide and Life-Prolonging Measures in Swiss ALS Patients and Their Caregivers
Stutzki R, Schneider U, Reiter-Theil S, Weber M. Attitudes Toward Assisted Suicide and Life-Prolonging Measures in Swiss ALS Patients and Their Caregivers. Front Psychol 2012; 3:443.
25.10.2012Attitudes Toward Assisted Suicide and Life-Prolonging Measures in Swiss ALS Patients and Their Caregivers
25.10.2012Front Psychol 2012; 3:443
Stutzki Ralf, Schneider Ursula, Reiter-Theil Stella, Weber Markus