Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
J Neurol. 2020 Dec;267(12):3643-3649. doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12.
J Neurol. 2020.
PMID: 32656641
Free PMC article.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R.
Hiz Kurul S, et al. Among authors: lochmuller a.
Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395.
Brain. 2022.
PMID: 34791078
Free PMC article.
Item in Clipboard
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G.
Atalaia A, et al. Among authors: lochmuller a.
Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7.
Orphanet J Rare Dis. 2020.
PMID: 32787960
Free PMC article.
Item in Clipboard
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G.
Atalaia A, et al. Among authors: lochmuller a.
Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6.
Orphanet J Rare Dis. 2021.
PMID: 33752678
Free PMC article.
No abstract available.
Item in Clipboard
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ, Lochmüller A, Atalaia A, Horvath R.
Jennings MJ, et al. Among authors: lochmuller a.
J Neuromuscul Dis. 2021;8(3):383-400. doi: 10.3233/JND-200546.
J Neuromuscul Dis. 2021.
PMID: 32773395
Free PMC article.
Item in Clipboard
Cite
Cite