275 related articles for article (PubMed ID: 35150594)
1. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L; De Winter J; Beijer D; Coarelli G; Wayand M; Palvadeau R; Pauly MG; Klein K; Rautenberg M; Guillot-Noël L; Deconinck T; Vural A; Ertan S; Dogu O; Uysal H; Brankovic V; Herzog R; Brice A; Durr A; Klebe S; Stock F; Bischoff AT; Rattay TW; Sobrido MJ; De Michele G; De Jonghe P; Klopstock T; Lohmann K; Zanni G; Santorelli FM; Timmerman V; Haack TB; Züchner S; ; Schüle R; Stevanin G; Synofzik M; Basak AN; Baets J
Mov Disord; 2022 Jun; 37(6):1175-1186. PubMed ID: 35150594
[TBL] [Abstract][Full Text] [Related]
2. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H; Benkirane M; Cali E; Rocca C; Zhelcheska K; Cipriani V; Galanaki E; Maroofian R; Efthymiou S; Murphy D; O'Driscoll M; Suri M; Banka S; Clayton-Smith J; Wright T; Redman M; Bassetti JA; Nizon M; Cogne B; Jamra RA; Bartolomaeus T; Heruth M; Krey I; Gburek-Augustat J; Wieczorek D; Gattermann F; Mcentagart M; Goldenberg A; Guyant-Marechal L; Garcia-Moreno H; Giunti P; Chabrol B; Bacrot S; Buissonnière R; Magry V; Gowda VK; Srinivasan VM; Melegh B; Szabó A; Sümegi K; Cossée M; Ziff M; Butterfield R; Hunt D; Bird-Lieberman G; Hanna M; Koenig M; Stankewich M; Vandrovcova J; Houlden H;
Genet Med; 2023 Jan; 25(1):76-89. PubMed ID: 36331550
[TBL] [Abstract][Full Text] [Related]
3. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S; Harms FL; Parrini E; Montomoli M; Mütze U; Helbig KL; Polster T; Albrecht B; Bernbeck U; van Binsbergen E; Biskup S; Burglen L; Denecke J; Heron B; Heyne HO; Hoffmann GF; Hornemann F; Matsushige T; Matsuura R; Kato M; Korenke GC; Kuechler A; Lämmer C; Merkenschlager A; Mignot C; Ruf S; Nakashima M; Saitsu H; Stamberger H; Pisano T; Tohyama J; Weckhuysen S; Werckx W; Wickert J; Mari F; Verbeek NE; Møller RS; Koeleman B; Matsumoto N; Dobyns WB; Battaglia D; Lemke JR; Kutsche K; Guerrini R
Brain; 2017 Sep; 140(9):2322-2336. PubMed ID: 29050398
[TBL] [Abstract][Full Text] [Related]
4. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M; Kurzwelly D; Wagner H; Soehn AS; Reichbauer J; Tao F; Rattay TW; Peitz M; Rehbach K; Giorgetti A; Pyle A; Thiele H; Altmüller J; Timmann D; Karaca I; Lennarz M; Baets J; Hengel H; Synofzik M; Atasu B; Feely S; Kennerson M; Stendel C; Lindig T; Gonzalez MA; Stirnberg R; Sturm M; Roeske S; Jung J; Bauer P; Lohmann E; Herms S; Heilmann-Heimbach S; Nicholson G; Mahanjah M; Sharkia R; Carloni P; Brüstle O; Klopstock T; Mathews KD; Shy ME; de Jonghe P; Chinnery PF; Horvath R; Kohlhase J; Schmitt I; Wolf M; Greschus S; Amunts K; Maier W; Schöls L; Nürnberg P; Zuchner S; Klockgether T; Ramirez A; Schüle R
Brain; 2017 Jun; 140(6):1561-1578. PubMed ID: 28459997
[TBL] [Abstract][Full Text] [Related]
5. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Ylikallio E; Kim D; Isohanni P; Auranen M; Kim E; Lönnqvist T; Tyynismaa H
Eur J Hum Genet; 2015 Oct; 23(10):1427-30. PubMed ID: 25585697
[TBL] [Abstract][Full Text] [Related]
6. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Leveille E; Estiar MA; Krohn L; Spiegelman D; Dionne-Laporte A; Dupré N; Trempe JF; Rouleau GA; Gan-Or Z
J Hum Genet; 2019 Nov; 64(11):1145-1151. PubMed ID: 31515523
[TBL] [Abstract][Full Text] [Related]
7. SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F; Chen S; Liu P; Chen X; Luo W
J Hum Genet; 2022 Mar; 67(3):165-168. PubMed ID: 34526651
[TBL] [Abstract][Full Text] [Related]
8. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lai LL; Chen YJ; Li YL; Lin XH; Wang MW; Dong EL; Wang N; Chen WJ; Lin X
Ann Clin Transl Neurol; 2020 Oct; 7(10):1862-1869. PubMed ID: 32860341
[TBL] [Abstract][Full Text] [Related]
9. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
[TBL] [Abstract][Full Text] [Related]
10. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Gatti M; Magri S; Di Bella D; Sarto E; Taroni F; Mariotti C; Nanetti L
Neurol Sci; 2021 Nov; 42(11):4741-4745. PubMed ID: 34251556
[TBL] [Abstract][Full Text] [Related]
11. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL; Firanescu C; Coarelli G; Kvarnung M; Rodrigues R; Pegoraro E; Tazir M; Taithe F; Valter R; Huin V; Lidström K; Banneau G; Morais S; Parodi L; Coutelier M; Papin M; Svenningsson P; Azulay JP; Alonso I; Nilsson D; Brice A; Le Guern E; Press R; Vazza G; Loureiro JL; Goizet C; Durr A; Paucar M; Stevanin G
Neurogenetics; 2021 Mar; 22(1):71-79. PubMed ID: 33486633
[TBL] [Abstract][Full Text] [Related]
12. SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J; Nakashima M; Nabatame S; Gaik-Siew C; Miyata R; Rener-Primec Z; Kato M; Matsumoto N; Saitsu H
J Hum Genet; 2015 Apr; 60(4):167-73. PubMed ID: 25631096
[TBL] [Abstract][Full Text] [Related]
13. Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.
Hedera P; Rainier S; Zhao XP; Schalling M; Lindblad K; Yuan QP; Ikeuchi T; Trobe J; Wald JJ; Eldevik OP; Kluin K; Fink JK
Neurology; 2002 Feb; 58(3):411-6. PubMed ID: 11839840
[TBL] [Abstract][Full Text] [Related]
14. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D; Hinarejos I; Argente-Escrig H; Marco-Marín C; Lozano MA; Gorría-Redondo N; Lupo V; Martí-Carrera I; Miranda C; Vázquez-López M; García-Pérez A; Marco-Hernández AV; Tomás-Vila M; Aguilera-Albesa S; Espinós C
Int J Mol Sci; 2023 Nov; 24(22):. PubMed ID: 38003592
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP
Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162
[TBL] [Abstract][Full Text] [Related]
16. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B; Fernández-Eulate G; Gamez J; Barahona-Hernando R; Morís G; García-Barcina M; Infante J; Zulaica M; Fernández-Pelayo U; Muñoz-Oreja M; Urtasun M; Olaskoaga A; Zelaya V; Jericó I; Saez-Villaverde R; Catalina I; Sola E; Martínez-Sáez E; Pujol A; Ruiz M; Schlüter A; Spinazzola A; Muñoz-Blanco JL; Grandas F; Holt I; Álvarez V; López de Munaín A
Mov Disord; 2019 Oct; 34(10):1547-1561. PubMed ID: 31433872
[TBL] [Abstract][Full Text] [Related]
17. Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
Viertauer S; Kurth I; Eggermann K; Eggers C
J Neurol; 2022 Dec; 269(12):6476-6482. PubMed ID: 35947152
[TBL] [Abstract][Full Text] [Related]
18. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Gartner V; Markello TC; Macnamara E; De Biase A; Thurm A; Joseph L; Beggs A; Schmahmann JD; Berry GT; Anselm I; Boslet E; Tifft CJ; Gahl WA; Lee PR
Am J Med Genet A; 2018 Dec; 176(12):2768-2776. PubMed ID: 30548380
[TBL] [Abstract][Full Text] [Related]
19. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
20. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X; Zhang L; Wu Y; Li G; Chen S; Xia Y; Li H
BMC Neurol; 2018 Nov; 18(1):196. PubMed ID: 30497413
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
