Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

40 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Zech M, Jech R, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Sadr-Nabavi A, Distelmaier F, Krenn M, Serranová T, Rektorová I, Havránková P, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Brunet T, Berutti R, Shariati M, Shoeibi A, Schneider SA, Kuster A, Baumann M, Weise D, Wilbert F, Janzarik WG, Eckenweiler M, Mall V, Haslinger B, Berweck S, Winkelmann J, Oexle K. Zech M, et al. Among authors: eckenweiler m. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman… See abstract for full author list ➔ Zech M, et al. Among authors: eckenweiler m. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Among authors: eckenweiler m. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Zech M, et al. Among authors: eckenweiler m. Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20. Ann Neurol. 2022. PMID: 34954817 Free PMC article.
Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP).
Koy A, Kühn AA, Huebl J, Schneider GH, van Riesen AK, Eckenweiler M, Rensing-Zimmermann C, Coenen VA, Krauss JK, Saryyeva A, Hartmann H, Haeussler M, Volkmann J, Matthies C, Horn A, Schnitzler A, Vesper J, Gharabaghi A, Weiss D, Bevot A, Marks W, Pomykal A, Monbaliu E, Borck G, Mueller J, Prinz-Langenohl R, Dembek T, Visser-Vandewalle V, Wirths J, Schiller P, Hellmich M, Timmermann L; STIM-CP investigators. Koy A, et al. Among authors: eckenweiler m. Mov Disord. 2022 Apr;37(4):799-811. doi: 10.1002/mds.28898. Epub 2021 Dec 29. Mov Disord. 2022. PMID: 34967053 Clinical Trial.
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Dzinovic I, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Pavelekova P, Havránková P, Tsoma E, Indelicato E, Runkel E, Held V, Weise D, Janzarik W, Eckenweiler M, Berweck S, Mall V, Haslinger B, Jech R, Winkelmann J, Zech M. Dzinovic I, et al. Among authors: eckenweiler m. Parkinsonism Relat Disord. 2022 Sep;102:1-6. doi: 10.1016/j.parkreldis.2022.07.003. Epub 2022 Jul 18. Parkinsonism Relat Disord. 2022. PMID: 35872528
Long-Term Follow-Up of Pediatric Patients with Dyskinetic Cerebral Palsy and Deep Brain Stimulation.
Koy A, Kühn AA, Schiller P, Huebl J, Schneider GH, Eckenweiler M, Rensing-Zimmermann C, Coenen VA, Krauss JK, Saryyeva A, Hartmann H, Lorenz D, Volkmann J, Matthies C, Schnitzler A, Vesper J, Gharabaghi A, Weiss D, Bevot A, Marks W, Howser A, Monbaliu E, Mueller J, Prinz-Langenohl R, Visser-Vandewalle V, Timmermann L; STIM-CP investigators. Koy A, et al. Among authors: eckenweiler m. Mov Disord. 2023 Sep;38(9):1736-1742. doi: 10.1002/mds.29516. Epub 2023 Jun 26. Mov Disord. 2023. PMID: 37358761
Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia.
Koy A, Bockhorn N, Kühn AA, Schneider GH, Krause P, Lauritsch K, Witt K, Paschen S, Deuschl G, Krauss JK, Saryyeva A, Runge J, Borggraefe I, Mehrkens JH, Horn A, Vesper J, Schnitzler A, Siegert S, Freilinger M, Eckenweiler M, Coenen VA, Tadic V, Voges J, Pauls KAM, Wirths J, Timmermann L, Hellmich M; GEPESTIM consortium. Koy A, et al. Among authors: eckenweiler m. Brain Stimul. 2019 Sep-Oct;12(5):1111-1120. doi: 10.1016/j.brs.2019.04.003. Epub 2019 Apr 13. Brain Stimul. 2019. PMID: 31031208
MR imaging in children with transverse myelitis and acquired demyelinating syndromes.
El Naggar I, Cleaveland R, Wendel EM, Bertolini A, Schanda K, Karenfort M, Thiels C, Della Marina A, Schimmel M, Leiz S, Lechner C, Baumann M, Reindl M, Wegener-Panzer A, Rostásy K; on-behalf-of-the-BIOMARKER-Study-Group. El Naggar I, et al. Mult Scler Relat Disord. 2022 Nov;67:104068. doi: 10.1016/j.msard.2022.104068. Epub 2022 Jul 22. Mult Scler Relat Disord. 2022. PMID: 35933757
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Wendel EM, Thonke HS, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, Karenfort M, Kornek B, Lechner C, Pohl D, Pritsch M, Schanda K, Schimmel M, Thiels C, Waltz S, Wiegand G, Anlar B, Barisic N, Blank C, Breu M, Broser P, Della Marina A, Diepold K, Eckenweiler M, Eisenkölbl A, Freilinger M, Gruber-Sedlmayr U, Hackenberg A, Iff T, Knierim E, Koch J, Kutschke G, Leiz S, Lischetzki G, Nosadini M, Pschibul A, Reiter-Fink E, Rohrbach D, Salandin M, Sartori S, Schlump JU, Stoffels J, Strautmanis J, Tibussek D, Tüngler V, Utzig N, Reindl M, Rostásy K; BIOMARKER Study Group. Wendel EM, et al. Among authors: eckenweiler m. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 13;9(6):e200035. doi: 10.1212/NXI.0000000000200035. Print 2022 Nov. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36229191 Free PMC article.
40 results