Research Papers

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PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbid…
Hebestreit S; Schwahn J; Sandikci V; Maros ME; Valkadinov I; Yilmaz R; Eckrich L; Loghmani SB; Lesch H; Conrad J; Wenz H; Ebert A; Brenner D; Weishaupt JH.
Neurogenetics (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical characterization of familial 1p36.3 microduplication.
Jiao J; Wang Y; Hou Y; Gao C; Shi H; Tian S.
Neurogenetics (Unknown)
Published: 2023
2/6 Transparent
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pec…
Falker-Gieske C; Bennewitz J; Tetens J.
Neurogenetics (Unknown)
Published: 2022
4/6 Transparent
Data Funding Declared
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM; Naggar WE; Saied MME; Kilany A.
Neurogenetics (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S; Veneziano L; Parkinson MH; Bhatia KP; Mantuano E; Gonzalez-Robles C; Davagnanam I; Giunti P.
Neurogenetics (Unknown)
Published: 2022
3/6 Transparent
Funding Declared
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
Brenner D; Müller K; Lattante S; Yilmaz R; Knehr A; Freischmidt A; Ludolph AC; Andersen PM; Weishaupt JH.
Neurogenetics (Unknown)
Published: 2021
2/6 Transparent
Funding Declared
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pse…
Cavestro C; Panteghini C; Reale C; Nasca A; Fenu S; Salsano E; Chiapparini L; Garavaglia B; Pareyson D; Di Meo I; Tiranti V.
Neurogenetics (Unknown)
Published: 2021
2/6 Transparent
Funding Declared
Milestones in genetics of cerebellar ataxias.
Krygier M; Mazurkiewicz-Bełdzińska M.
Neurogenetics (Unknown)
Published: 2021
2/6 Transparent
Funding Declared
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Grosz BR; Svaren J; Perez-Siles G; Nicholson GA; Kennerson ML.
Neurogenetics (Unknown)
Published: 2021
2/6 Transparent
Funding Declared
Does genetic anticipation occur in familial Alexander disease?
Hunt CK; Al Khleifat A; Burchill E; Ederle J; Al-Chalabi A; Sreedharan J.
Neurogenetics (Unknown)
Published: 2021
3/6 Transparent
Funding Declared
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Magistrelli L; Croce R; De Marchi F; Basagni C; Carecchio M; Nasuelli N; Cantello R; Invernizzi F; Garavaglia B; Comi C; Mazzini L; D'Alfonso S; Corrado L.
Neurogenetics (Unknown)
Published: 2021
2/6 Transparent
Funding Declared
Familial writer's cramp: a clinical clue for inherited coenzyme Q<sub>10</sub> deficiency.
Amprosi M; Zech M; Steiger R; Nachbauer W; Eigentler A; Gizewski ER; Guger M; Indelicato E; Boesch S.
Neurogenetics (Unknown)
Published: 2020
2/6 Transparent
Funding Declared
Familial analysis reveals rare risk variants for migraine in regulatory regions.
Techlo TR; Rasmussen AH; Møller PL; Bøttcher M; Winther S; Davidsson OB; Olofsson IA; Chalmer MA; Kogelman LJA; Nyegaard M; Olesen J; Hansen TF.
Neurogenetics (Unknown)
Published: 2020
2/6 Transparent
Funding Declared
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I; Al-Saady M; Krägeloh-Mann I; Bley A; Hempel M; Bierhals T; Karch S; Moog U; Bernard G; Huntsman R; van Spaendonk RML; Vreeburg M; Rodríguez-Palmero A; Pujol A; van der Knaap MS; Pouwels PJW; Wolf NI.
Neurogenetics (Unknown)
Published: 2020
2/6 Transparent
Funding Declared
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phen…
Elert-Dobkowska E; Stepniak I; Krysa W; Ziora-Jakutowicz K; Rakowicz M; Sobanska A; Pilch J; Antczak-Marach D; Zaremba J; Sulek A.
Neurogenetics (Unknown)
Published: 2019
1/6 Transparent
Funding Declared
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously rel…
Leal A; Bogantes-Ledezma S; Ekici AB; Uebe S; Thiel CT; Sticht H; Berghoff M; Berghoff C; Morera B; Meisterernst M; Reis A; Reis A.
Neurogenetics (Unknown)
Published: 2018
1/6 Transparent
Funding Declared
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3C…
Ranieri C; Di Tommaso S; Loconte DC; Grossi V; Sanese P; Bagnulo R; Susca FC; Forte G; Peserico A; De Luisi A; Bartuli A; Selicorni A; Melis D; Lerone M; Praticò AD; Abbadessa G; Yu Y; Schwartz B; Ruggieri M; Simone C; Resta N.
Neurogenetics (Unknown)
Published: 2018
2/6 Transparent
Funding Declared
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expres…
Glasgow RIC; Thompson K; Barbosa IA; He L; Alston CL; Deshpande C; Simpson MA; Morris AAM; Neu A; Löbel U; Hall J; Prokisch H; Haack TB; Hempel M; McFarland R; Taylor RW.
Neurogenetics (Unknown)
Published: 2017
3/6 Transparent
Data Funding Declared
Male patients affected by mosaic PCDH19 mutations: five new cases.
de Lange IM; Rump P; Neuteboom RF; Augustijn PB; Hodges K; Kistemaker AI; Brouwer OF; Mancini GMS; Newman HA; Vos YJ; Helbig KL; Peeters-Scholte C; Kriek M; Knoers NV; Lindhout D; Koeleman BPC; van Kempen MJA; Brilstra EH.
Neurogenetics (Unknown)
Published: 2017
2/6 Transparent
Funding Declared
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromoso…
Murthy MN; Blauwendraat C; UKBEC; Guelfi S; IPDGC; Hardy J; Lewis PA; Trabzuni D.
Neurogenetics (Unknown)
Published: 2017
3/6 Transparent
Data Funding Declared
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG; Andreoletti G; Talbot K; Hammans SR; Singh J; Whitney A; Ennis S; Foulds NC.
Neurogenetics (Unknown)
Published: 2017
2/6 Transparent
Funding Declared
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected…
Schon K; Spasic-Boskovic O; Brugger K; Graves TD; Abbs S; Park SM; Ambegaonkar G; Armstrong R.
Neurogenetics (Unknown)
Published: 2017
1/6 Transparent
Funding Declared
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ.
Neurogenetics (Unknown)
Published: 2016
2/6 Transparent
Funding Declared
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.
Jensen N; Autzen JK; Pedersen L.
Neurogenetics (Unknown)
Published: 2015
2/6 Transparent
Funding Declared
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger sy…
Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R; Khan MI; den Hollander AI.
Neurogenetics (Unknown)
Published: 2015
2/6 Transparent
Funding Declared