Search Results - "Zech, M."

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Authors: Krygier M Sitek EJ Chylińska M et al.

Source: Frontiers in neurology [Front Neurol] 2026 Mar 30; Vol. 17, pp. 1728361. Date of Electronic Publication: 2026 Mar 30 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.

Authors: Indelicato E Siegert S Langer A et al.

Source: Frontiers in neurology [Front Neurol] 2026 Feb 09; Vol. 17, pp. 1727854. Date of Electronic Publication: 2026 Feb 09 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Authors: Sorrentino U Brugger M Saparov A et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.

Authors: Yarahmadi F Shoiebi A Shariati M et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Nov; Vol. 46 (11), pp. 5657-5669. Date of Electronic Publication: 2025 Aug 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Author Index J. Plant Nutr. Soil Sci. 2013 (Vol. 176).

Source: Journal of Plant Nutrition & Soil Science. Dec2013, Vol. 176 Issue 6, p978-983. 6p.

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1.

Authors: Scacciatella, Giulia Masetti, Costanza Yahya, Vidal et al.

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1421-1424. 4p.

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High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic.

Authors: Penn, Dvir Amir, Yam David, Gil Ben et al.

Source: Movement Disorders Clinical Practice. Nov2025, Vol. 12 Issue 11, p1811-1820. 10p.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Authors: Harrer P Kittke V Saparov A et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2026 Apr 09. Date of Electronic Publication: 2026 Apr 09.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia.

Authors: Indelicato E Eberl A Boesch S et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Feb; Vol. 40 (2), pp. 357-362. Date of Electronic Publication: 2024 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Authors: Peirano E O'Regan L Harrer P et al.

Source: EBioMedicine [EBioMedicine] 2026 Jul; Vol. 129, pp. 106358. Date of Electronic Publication: 2026 Jun 29.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Sex-related differences in the short and long-term outcome of internal pallidus stimulation for dystonia.

Authors: Romito LM Telese R Kaymak A et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2026 Jan 17; Vol. 47 (1), pp. 168. Date of Electronic Publication: 2026 Jan 17.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.

Authors: Kasprzak J Dulski J Schinwelski M et al.

Source: Clinical parkinsonism & related disorders [Clin Park Relat Disord] 2025 Nov 15; Vol. 13, pp. 100406. Date of Electronic Publication: 2025 Nov 15 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101761473 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-1125 (Electronic) Linking ISSN: 25901125 NLM ISO Abbreviation: Clin Park Relat Disord Subsets: PubMed not MEDLINE

Artificial Vision in Renewable Photovoltaic Systems: A Review and Vision of Specific Applications and Technologies.

Authors: Amaral, Tito G. Cordeiro, Armando Pires, Vitor Fernão

Source: Applied Sciences (2076-3417); Dec2025, Vol. 15 Issue 24, p13285, 93p

Early‐Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

Authors: Yan, Jiuqi He, Xinyi Qiu, Chang et al.

Source: Movement Disorders Clinical Practice. Dec2024, Vol. 11 Issue 12, p1638-1641. 4p.

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Authors: Harrer P Krygier M Krenn M et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Jul; Vol. 40 (7), pp. 1388-1400. Date of Electronic Publication: 2025 Apr 25.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia.

Authors: Wirth T Kumar KR Zech M

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Jun; Vol. 40 (6), pp. 1009-1019. Date of Electronic Publication: 2025 Apr 23.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.

Authors: Romito, Luigi M. Colucci, Fabiana Leta, Valentina et al.

Source: Movement Disorders Clinical Practice. Feb2025, Vol. 12 Issue 2, p239-241. 3p.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Authors: Magrinelli F Tesson C Angelova PR et al.

Corporate Authors: Magrinelli F Tesson C Angelova PR et al.

Source: Nature communications [Nat Commun] 2026 Apr 15; Vol. 17 (1). Date of Electronic Publication: 2026 Apr 15.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine.

Authors: Tsoma E Studeniak T Jech R et al.

Source: Case reports in neurological medicine [Case Rep Neurol Med] 2026 Mar 06; Vol. 2026, pp. 4661314. Date of Electronic Publication: 2026 Mar 06 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101576451 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6668 (Print) Linking ISSN: 20906676 NLM ISO Abbreviation: Case Rep Neurol Med Subsets: PubMed not MEDLINE