Publikationen der ALS-Forschungsgruppe an der Charité
Symptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme.
Meyer T, Kettemann D, Maier A, Grehl T, Weyen U, Grosskreutz J, Steinbach R, Norden J, George A,Hermann A, Guenther R, Petri S, Schreiber-Katz O, Dorst J, Ludolph AC, Walter B, Münch C, Spittel S.
J Neurol Neurosurg Psychiatry. 2020 Apr 21. pii: jnnp-2020-322938. doi: 10.1136/jnnp-2020-322938. [Epub ahead of print]
PMID: 32317400J Neurol Neurosurg Psychiatry, April 2020
Real world experience of patients with amyotrophic lateral sclerosis (ALS) in the treatment of spastic using tetrahydrocannabinol:cannabidiol (THC:CBD).
S.
BMC Neurol. 2019 Sep 7;19(1):222. doi: 10.1186/s12883-019-1443-y.
PMID: 31493784Patient-Reported Outcome of Physical Therapy in Amyotrophic Lateral Sclerosis: Observational Online Study
JMIR Rehabil Assist Technol. 2018 Nov 12;5(2):e10099. doi: 10.2196/10099.
PMID: 30425026JMIR Publications, Januar 2019
Provision of assistive technology devices among peolple with ALS in Germany: a platform-case management approach.
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):342-350. doi: 10.1080/21678421.2018.1431786. Epub 2018 Jan 30.
PMID: 29382225Journal Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, August 2018
Clinical characteristics and course of dying in patients with amyotrophic lateral sclerosis withdrawing from long-term ventilation.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):53-59. doi: 10.1080/21678421.2016.1214734. Epub 2016 Aug 18.
PMID: 27534566Journal Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Februar 2017
Interleukin-1 Antagonist Anakinra in Amyotriphic Lateral Sclerosis – A Pilot Study.
PLoS One. 2015 Oct 7;10(10):e0139684. doi: 10.1371/journal.pone.0139684. eCollection 2015.
PMID: 26444282Provision of assistive devices in amyotrophic lateral sclerosis. Analysis of 3 years case management in an internet-based supply network.
Nervenarzt. 2015 Aug;86(8):1007-17. doi: 10.1007/s00115-015-4398-2.
PMID: 26220007Svere loss of appetite in amyotrophic lateral sclerosis patients: online self-assessment study.
Interact J Med Res. 2013 Apr 17;2(1):e8. doi: 10.2196/ijmr.2463.
PMID: 23608722Concomitant amyotrophic lateral sclerosis and paraclinical laboratory features of multiple sclerosis: coincidence or causal relationship?
BMJ Case Rep. 2013 Jan 23;2013:bcr2012007975. doi: 10.1136/bcr-2012-007975.
PMID: 23349176Online assessment of ALS functional rating scale compares well to in-clinic evaluation: a prospective trial.
Amyotroph Lateral Scler. 2012 Feb;13(2):210-6. doi: 10.3109/17482968.2011.633268.
PMID: 22292842Motor neuron diseases.
Nervenarzt. 2011 Jun;82(6):697-706. doi: 10.1007/s00115-010-2967-y.
PMID: 21626001Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.
Amyotroph Lateral Scler. 2008 Aug;9(4):251-3. doi: 10.1080/17482960801900172.
PMID: 18608088Amyotrophic Lateral Sclerosis, August 2008
Elective termination of respiratory therapy in amyotrophic lateral sclerosis.
Nervenarzt. 2008 Jun;79(6):684-90. doi: 10.1007/s00115-008-2439-9.
PMID: 18330539Thalidomide causes sinus bradycardia in ALS.
J Neurol. 2008 Apr;255(4):587-91. doi: 10.1007/s00415-008-0756-3. Epub 2008 Apr 21.
PMID: 18425621Progressive muscle atrophy. A rarely diagnosed variant of amyotrophic lateral sclerosis.
Nervenarzt. 2007 Dec;78(12):1383-8. doi: 10.1007/s00115-007-2288-y.
PMID: 17516042Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
Ann Neurol. 2005 Nov;58(5):777-80. doi: 10.1002/ana.20631.
PMID: 16240349Annals of Neurology, November 2005
Frequency of a tau genotype in amyotrophic lateral sclerosis.
J Neurol Sci. 2005 Sep 15;236(1-2):13-6. doi: 10.1016/j.jns.2005.04.004.
PMID: 16005901Early-onset ALS with long-term survival associated with spastin gene mutation.
Neurology. 2005 Jul 12;65(1):141-3. doi: 10.1212/01.wnl.0000167130.31618.0a.
PMID: 16009903Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
Neurology. 2004 Aug 24;63(4):724-6. doi: 10.1212/01.wnl.0000134608.83927.b1.
PMID: 15326253Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
Ann Neurol. 2004 Jan;55(1):134-8. doi: 10.1002/ana.10822.
PMID: 14705124High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
Neurology. 2003 Apr 22;60(8):1348-50. doi: 10.1212/01.wnl.0000055088.52681.f1.
PMID: 12707441The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals.
J Neurol Sci. 1999 Nov 15;170(1):45-50. doi: 10.1016/s0022-510x(99)00196-3.
PMID: 10540035Journal of the Neurological Sciences, November 1999
The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia?
J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):594-6. doi: 10.1136/jnnp.65.4.594.
PMID: 9771796Journal of Neurology, Neurosurgery and Psychiatry, Oktober 1998
Studies of the coding region of the neuronal glutamate transporter gene in amyotrophic lateral sclerosis.
Ann Neurol. 1995 Jun;37(6):817-9. doi: 10.1002/ana.410370618.
PMID: 7778858Annals of Neurology, Juni 1995
Publikationen mit Beteiligung der ALS-Forschungsgruppe an der Charité
Effect of High-Caloric Nutrition on Survival in Amyotrophic Lateral Sclerosis.
Ann Neurol. 2020 Feb;87(2):206-216. doi: 10.1002/ana.25661. [Epub ahead of print]
PMID: 31849093Annals of Neurology, Februar 2020
Prognostic factors in ALS: a comparison between Germany and China.
J Neurol. 2019 Jun;266(6):1516-1525. doi: 10.1007/s00415-019-09290-4. Epub 2019 Mar 28
PMID: 30923935Journal of Neurology, Juni 2019
GABAB receptor encephalitis in a patient diagnosed with amyotrophic lateral sclerosis.
BMC Neurol. 2019 Mar 14;19(1):41. doi: 10.1186/s12883-019-1269-7.
PMID: 30871492Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial
Lancet Neurol. 2018 Aug;17(8):681-688. doi: 10.1016/S1474-4422(18)30176-5. Epub 2018 Jun 19.
PMID: 29934198The Lancet Neurology, August 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.
PMID: 29650794Therapeutic decision in ALS patients: cross-cultural differences and clinical implications.
J Neurol. 2018 Jul;265(7):1600-1606. doi: 10.1007/s00415-018-8861-4. Epub 2018 May 4.
PMID: 29728768The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
J Neurol. 2018 May;265(5):1026-1036. doi: 10.1007/s00415-018-8790-2. Epub 2018 Feb 20.
PMID: 29464380Hot-spot KIF5 Amutations cause familial ALS.
Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.
PMID: 29342275July 2017 ENCALS statement on edaravone.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):471-474. doi: 10.1080/21678421.2017.1369125. Epub 2017 Oct 4.
PMID: 28975816Amyotroph Lateral Scler Frontotemporal Degener , November 2017
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):256-264. doi: 10.1080/21678421.2016.1262423. Epub 2016 Dec 12.
PMID: 27936955Diagnostic and prognostic significance of neurofilament ligth chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):112-119. doi: 10.1080/21678421.2016.1241279. Epub 2016 Nov 5.
PMID: 27819158Amyotroph Lateral Scler Frontotemporal Degener , Februar 2017
Genome-wide association analysis identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.
PMID: 27455348Nature Genetics , September 2016
A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS).
Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):325-36. doi: 10.3109/21678421.2016.1167911. Epub 2016 Apr 14.
PMID: 2707804Amyotroph Lateral Scler Frontotemporal Degener , Juli 2016
Alterations int the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.
Brain. 2016 Apr;139(Pt 4):1106-22. doi: 10.1093/brain/aww004. Epub 2016 Mar 16.
PMID: 26984187Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24.
PMID: 25803835Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study.
J Neurol. 2015;262(4):849-58. doi: 10.1007/s00415-015-7646-2. Epub 2015 Jan 25.
PMID: 25618254Journal of Neurology, Januar 2015
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2.
PMID: 25468678Human Molecular Genetic, Dezember 2014
Crowdsourced analysis of clinical trial data to predict amyotrophic lateral sclerosis progression.
Nat Biotechnol. 2015 Jan;33(1):51-7. doi: 10.1038/nbt.3051. Epub 2014 Nov 2.
PMID: 25362243nature biotechnology, November 2014
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19.
PMID: 24838185Neurobiology of Aging, Oktober 2014
Safety, pharmacokinetic, and functional effects of the nogo-a monoclonal antibody in amyotrophic lateral sclerosis: a randomized. first-in-human clinical trial.
PLoS One. 2014 May 19;9(5):e97803. doi: 10.1371/journal.pone.0097803. eCollection 2014.
PMID: 24841795A phase II-III trial of olesoxime in subjects with amyotrophic lateral sclerosis.
Eur J Neurol. 2014 Mar;21(3):529-36. doi: 10.1111/ene.12344. Epub 2014 Jan 21.
PMID: 24447620european journal of neurology, März 2014
Live and let die: existential decision processes in a fatal disease.
J Neurol. 2014 Mar;261(3):518-25. doi: 10.1007/s00415-013-7229-z. Epub 2014 Jan 12.
PMID: 24413639Journal of Neurology, März 2014
Diffusion tensor imaging in amyotrophic lateral sclerosis – increased sensitivity with optimized region-of-interest delineation.
2014 Mar;24(1):37-42. doi: 10.1007/s00062-013-0221-2. Epub 2013 May 14.
PMID: 23670494Clinical Neuroradiology, März 2014
In vivo waveguide elastography: effects of neurodegeneration in patients with amyotrophic lateral sclerosis.
.
PMID: 24347290Magnetic Resonance in Medicine , Dezember 2013
PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
Hum Mol Genet. 2013 Sep 1;22(17):3477-84. doi: 10.1093/hmg/ddt202. Epub 2013 May 12.
PMID: 23669350Human Molecular Genetics , September 2013
Optical coherence tomography does not support optic nerve involvement in amyotrophic lateral sclerosis.
Eur J Neurol. 2013 Aug;20(8):1170-6. doi: 10.1111/ene.12146. Epub 2013 Apr 14.
PMID: 23582075European Journal of Neurology , August 2013
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
2013 May;120(5):785-98. doi: 10.1007/s00702-012-0910-z. Epub 2012 Nov 11.
PMID: 23143281Journal of Neural Transmission, Mai 2013
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.
PMID: 23062601Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany.
Eur J Neurol. 2013 Mar;20(3):540-6. doi: 10.1111/ene.12031. Epub 2012 Dec 6.
PMID: 23217123European Journal of Neurology , März 2013
A randomized, double blind, placebo-controlled trial of pioglitazone in combination with riluzole in amyotrophic lateral sclerosis.
PLoS One. 2012;7(6):e37885. doi: 10.1371/journal.pone.0037885. Epub 2012 Jun 8.
PMID: 22715372NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28.
PMID: 22378146Human Molecular Genetics , Juni 2012
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
Hum Mol Genet. 2011 May 1;20(9):1697-700. doi: 10.1093/hmg/ddr045. Epub 2011 Feb 3.
PMID: 21292779A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.
PMID: 20685689Novel missense and truncating mutations in FUS/TLS in familial ALS.
Neurology. 2010 Aug 31;75(9):815-7. doi: 10.1212/WNL.0b013e3181f07e26. Epub 2010 Jul 21.
PMID: 20660363Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.PMID.
PMID: 19734901No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort.
Neurobiol Aging. 2011 Mar;32(3):551.e1-4. doi: 10.1016/j.neurobiolaging.2009.04.018. Epub 2009 May 22.
PMID: 19464757Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
J Neurol. 2009 Aug;256(8):1337-42. doi: 10.1007/s00415-009-5124-4. Epub 2009 Apr 12.
PMID: 19363631Journal of Neurology, August 2009
Validity of the ALS-Depression-Inventory (ADI-12) – a new screening instrument for depressive disorders in patients with amyotrophic lateral sclerosis.
J Affect Disord. 2008 Jul;109(1-2):213-9. doi: 10.1016/j.jad.2007.11.012. Epub 2008 Feb 11.
PMID: 18262283Journal of Affective Disorders, August 2008
Guidelines for the preclinical in vivo evaluation of pharmacological active drugs for ALS/MND: report on the 142nd ENMC international workshop.
Amyotroph Lateral Scler. 2007 Aug;8(4):217-23. doi: 10.1080/17482960701292837.
PMID: 17653919Journal Amyotrophic Lateral Sclerosis, August 2007
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1186-8. doi: 10.1136/jnnp.2003.028324.
PMID: 15258228Journal of Neurology, Neurosurgery & Psychiatry, August 2004
The role of excitotoxicity in ALS – what is the evidence?
J Neurol. 2000 Mar;247 Suppl 1:I7-16. doi: 10.1007/s004150050552.
PMID: 10795882Journal of Neurology, März 2000
Antiglutamate therapy of ALS – which is the next step?
J Neural Transm Suppl. 1999;55:79-95. doi: 10.1007/978-3-7091-6369-6_8.
PMID: 10335495Advances in Research on Neurodegeneration pp 79-95, 1999
Molecular biology findings in amyotrophic lateral sclerosis.
Nervenarzt. 1997 Oct;68(10):785-91. doi: 10.1007/s001150050195.
PMID: 9441250