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Items: 1 to 20 of 133

1.

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Danielsson A, Carecchio M, Cif L, Koy A, Lin JP, Solders G, Romito L, Lohmann K, Garavaglia B, Reale C, Zorzi G, Nardocci N, Coubes P, Gonzalez V, Roubertie A, Collod-Beroud G, Lind G, Tedroff K.

J Clin Med. 2019 Dec 6;8(12). pii: E2163. doi: 10.3390/jcm8122163.

2.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.

Hum Mutat. 2019 Dec;40(12):2444. doi: 10.1002/humu.23913. Epub 2019 Nov 4. No abstract available.

PMID:
31758849
3.

Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.

Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N.

J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20.

PMID:
31745726
4.

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease.

Dulovic-Mahlow M, Lukomska A, Diaw SH, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P.

Stem Cell Res. 2019 Dec;41:101629. doi: 10.1016/j.scr.2019.101629. Epub 2019 Oct 19.

5.

Rediscovery of repeat expansions: Solving the unsolved cases.

Lohmann K, Brüggemann N.

Mov Disord. 2019 Sep;34(9):1300. doi: 10.1002/mds.27825. Epub 2019 Aug 23. No abstract available.

PMID:
31442343
6.

The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations.

Borsche M, Balck A, Kasten M, Lohmann K, Klein C, Brüggemann N.

Parkinsonism Relat Disord. 2019 Aug;65:284-285. doi: 10.1016/j.parkreldis.2019.06.020. Epub 2019 Jun 23.

PMID:
31255538
7.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A.

J Neurodev Disord. 2019 Jun 25;11(1):11. doi: 10.1186/s11689-019-9270-4.

8.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K.

Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.

9.

Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?

Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C.

Ann Clin Transl Neurol. 2019 May 2;6(6):1102-1105. doi: 10.1002/acn3.775. eCollection 2019 Jun.

10.

Using global team science to identify genetic parkinson's disease worldwide.

Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group.

Ann Neurol. 2019 Aug;86(2):153-157. doi: 10.1002/ana.25514. Epub 2019 Jun 26. No abstract available.

PMID:
31155756
11.

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Dulovic-Mahlow M, Gajos A, Baumann H, Pozojevic J, Kaiser FJ, Bogucki A, Lohmann K.

Parkinsonism Relat Disord. 2019 Aug;65:274-276. doi: 10.1016/j.parkreldis.2019.05.036. Epub 2019 May 25. No abstract available.

PMID:
31153764
12.

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.

Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K.

Cerebellum. 2019 Aug;18(4):817-822. doi: 10.1007/s12311-019-01036-2.

PMID:
31111429
13.

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C.

Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.

PMID:
30973967
14.

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K.

Parkinsonism Relat Disord. 2019 Jul;64:337-339. doi: 10.1016/j.parkreldis.2019.03.018. Epub 2019 Mar 25. No abstract available.

PMID:
30935829
15.

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.

PMID:
30712998
16.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

PMID:
30537300
17.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K.

J Neurol Sci. 2019 Jan 15;396:199-201. doi: 10.1016/j.jns.2018.11.024. Epub 2018 Nov 22. No abstract available.

PMID:
30502610
18.

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease.

Chung SJ, König IR, Lohmann K, Hinrichs F, Kim J, Ryu HS, Lee HJ, Kim K, Lee JH, Jung KW, Kim MJ, Kim MJ, Kim YJ, Yun SC, Hong SM, Myung SJ, Klein C.

Parkinsonism Relat Disord. 2019 Apr;61:151-155. doi: 10.1016/j.parkreldis.2018.10.028. Epub 2018 Oct 26.

PMID:
30424941
19.

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.

Trinh J, Zeldenrust FMJ, Huang J, Kasten M, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C.

Mov Disord. 2018 Dec;33(12):1857-1870. doi: 10.1002/mds.27527. Epub 2018 Oct 24.

PMID:
30357936
20.

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.

Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P.

Stem Cell Res. 2018 Dec;33:60-64. doi: 10.1016/j.scr.2018.09.018. Epub 2018 Oct 1.

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