BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 31168944)

  • 1. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
    Walker MA; Lerman-Sagie T; Swoboda K; Lev D; Blumkin L
    Am J Med Genet A; 2019 Aug; 179(8):1575-1579. PubMed ID: 31168944
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
    Rabin R; Hirsch Y; Johansson MM; Ekstein J; Ekstein A; Pappas J
    Am J Med Genet A; 2021 May; 185(5):1589-1597. PubMed ID: 33682303
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
    Edvardson S; Elbaz-Alon Y; Jalas C; Matlock A; Patel K; Labbé K; Shaag A; Jackman JE; Elpeleg O
    Neurogenetics; 2016 Oct; 17(4):219-225. PubMed ID: 27307223
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.
    Han R; Chu M; Gao J; Wang J; Wang M; Ma Y; Jia T; Zhang X
    J Hum Genet; 2023 Dec; 68(12):843-848. PubMed ID: 37670026
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.
    Damásio J; Santos M; Samões R; Araújo M; Macedo M; Sardoeira A; Cavaco S; Freitas J; Barros J; Oliveira J; Sequeiros J
    Clin Genet; 2021 Dec; 100(6):743-747. PubMed ID: 34477219
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
    Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
    Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
    Duan X; Hao Y; Cao Z; Zhou C; Zhang J; Wang R; Sun S; Gu W
    Cerebellum; 2021 Feb; 20(1):74-82. PubMed ID: 32889669
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
    Doi H; Koyano S; Miyatake S; Nakajima S; Nakazawa Y; Kunii M; Tomita-Katsumoto A; Oda K; Yamaguchi Y; Fukai R; Ikeda S; Kato R; Ogata K; Kubota S; Hayashi N; Takahashi K; Tada M; Tanaka K; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Ogi T; Aihara M; Takeuchi H; Matsumoto N; Tanaka F
    J Hum Genet; 2018 Apr; 63(4):417-423. PubMed ID: 29403087
    [TBL] [Abstract][Full Text] [Related]  

  • 9. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
    Gatti M; Magri S; Nanetti L; Sarto E; Di Bella D; Salsano E; Pantaleoni C; Mariotti C; Taroni F
    Am J Med Genet A; 2019 Nov; 179(11):2277-2283. PubMed ID: 31436889
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
    Synofzik M; Smets K; Mallaret M; Di Bella D; Gallenmüller C; Baets J; Schulze M; Magri S; Sarto E; Mustafa M; Deconinck T; Haack T; Züchner S; Gonzalez M; Timmann D; Stendel C; Klopstock T; Durr A; Tranchant C; Sturm M; Hamza W; Nanetti L; Mariotti C; Koenig M; Schöls L; Schüle R; de Jonghe P; Anheim M; Taroni F; Bauer P
    Brain; 2016 May; 139(Pt 5):1378-93. PubMed ID: 27086870
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
    Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
    BMC Med Genet; 2017 Dec; 18(1):144. PubMed ID: 29207948
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
    Peralta S; González-Quintana A; Ybarra M; Delmiro A; Pérez-Pérez R; Docampo J; Arenas J; Blázquez A; Ugalde C; Martín MA
    Mol Genet Metab; 2019 Dec; 128(4):452-462. PubMed ID: 31727539
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
    Mancini C; Giorgio E; Rubegni A; Pradotto L; Bagnoli S; Rubino E; Prontera P; Cavalieri S; Di Gregorio E; Ferrero M; Pozzi E; Riberi E; Ferrero P; Nigro P; Mauro A; Zibetti M; Tessa A; Barghigiani M; Antenora A; Sirchia F; Piacentini S; Silvestri G; De Michele G; Filla A; Orsi L; Santorelli FM; Brusco A
    Eur J Neurol; 2019 Jan; 26(1):80-86. PubMed ID: 30098094
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
    Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
    J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
    Nicita F; Nardella M; Bellacchio E; Alfieri P; Terrone G; Piccini G; Graziola F; Pignata C; Capuano A; Bertini E; Zanni G
    Clin Genet; 2019 Aug; 96(2):169-175. PubMed ID: 31066025
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Autosomal recessive cerebellar ataxias].
    Tranchant C; Anheim M
    Presse Med; 2009 Dec; 38(12):1852-9. PubMed ID: 19442480
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
    Guergueltcheva V; Azmanov DN; Angelicheva D; Smith KR; Chamova T; Florez L; Bynevelt M; Nguyen T; Cherninkova S; Bojinova V; Kaprelyan A; Angelova L; Morar B; Chandler D; Kaneva R; Bahlo M; Tournev I; Kalaydjieva L
    Am J Hum Genet; 2012 Sep; 91(3):553-64. PubMed ID: 22901947
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal recessive cerebellar ataxias.
    Palau F; Espinós C
    Orphanet J Rare Dis; 2006 Nov; 1():47. PubMed ID: 17112370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
    Vermeer S; Hoischen A; Meijer RP; Gilissen C; Neveling K; Wieskamp N; de Brouwer A; Koenig M; Anheim M; Assoum M; Drouot N; Todorovic S; Milic-Rasic V; Lochmüller H; Stevanin G; Goizet C; David A; Durr A; Brice A; Kremer B; van de Warrenburg BP; Schijvenaars MM; Heister A; Kwint M; Arts P; van der Wijst J; Veltman J; Kamsteeg EJ; Scheffer H; Knoers N
    Am J Hum Genet; 2010 Dec; 87(6):813-9. PubMed ID: 21092923
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.