These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

278 related articles for article (PubMed ID: 31693170)

  • 21. Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
    Stendel C; Wagner M; Rudolph G; Klopstock T
    Neuropediatrics; 2019 Dec; 50(6):382-386. PubMed ID: 31340402
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report.
    Siavashani ES; Ashrafi MR; Ghabeli H; Heidari M; Garshasbi M
    BMC Med Genomics; 2023 Sep; 16(1):226. PubMed ID: 37752557
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
    Farnè M; Tedesco GM; Bedetti C; Mencarelli A; Rogaia D; Colavito D; Di Cara G; Stangoni G; Troiani S; Ferlini A; Prontera P
    Am J Med Genet A; 2020 Oct; 182(10):2377-2383. PubMed ID: 32744787
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    De Silva D; Williamson KA; Dayasiri KC; Suraweera N; Quinters V; Abeysekara H; Wanigasinghe J; De Silva D; De Silva H
    BMC Pediatr; 2018 Sep; 18(1):308. PubMed ID: 30249237
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
    Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S
    Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
    Kume K; Morino H; Miyamoto R; Matsuda Y; Ohsawa R; Kanaya Y; Tada Y; Kurashige T; Kawakami H
    BMC Med Genet; 2020 Mar; 21(1):68. PubMed ID: 32234020
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A unique de novo gain-of-function variant in
    Zech M; Lam DD; Weber S; Berutti R; Poláková K; Havránková P; Fečíková A; Strom TM; Růžička E; Jech R; Winkelmann J
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30262571
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.
    Kolb LE; Arlier Z; Yalcinkaya C; Ozturk AK; Moliterno JA; Erturk O; Bayrakli F; Korkmaz B; DiLuna ML; Yasuno K; Bilguvar K; Ozcelik T; Tuysuz B; State MW; Gunel M
    Neurogenetics; 2010 Jul; 11(3):319-25. PubMed ID: 20082205
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
    Onat OE; Gulsuner S; Bilguvar K; Nazli Basak A; Topaloglu H; Tan M; Tan U; Gunel M; Ozcelik T
    Eur J Hum Genet; 2013 Mar; 21(3):281-5. PubMed ID: 22892528
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
    Paganini L; Pesenti C; Milani D; Fontana L; Motta S; Sirchia SM; Scuvera G; Marchisio P; Esposito S; Cinnante CM; Tabano SM; Miozzo MR
    Am J Med Genet A; 2018 Jun; 176(6):1427-1431. PubMed ID: 29663667
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
    Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
    Teov B; Janchevska A; Beqiri-Jasari A; Tasic V; Kungulovski G; Gucev Z
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2023 Dec; 44(3):85-90. PubMed ID: 38109455
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
    Wilton KM; Gunderson LB; Hasadsri L; Wood CP; Schimmenti LA
    Mol Genet Genomic Med; 2020 May; 8(5):e1211. PubMed ID: 32162493
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
    Velasco HM; Ullah E; Martin AM; Hufnagel RB; Prada CE
    Am J Med Genet A; 2020 Oct; 182(10):2214-2221. PubMed ID: 32783359
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
    Rafeeq MM; Umair M; Bilal M; Habib AH; Waqas A; Sain ZM; Alam MZ; Ali RH
    Neurogenetics; 2023 Jan; 24(1):55-60. PubMed ID: 36190665
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.
    Bezuidenhout H; Bayley S; Smit L; Kinnear C; Möller M; Uren C; Urban MF
    Am J Med Genet A; 2020 Oct; 182(10):2230-2235. PubMed ID: 32845056
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic Variant in
    Protasova MS; Andreeva TV; Klyushnikov SA; Illarioshkin SN; Rogaev EI
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675067
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
    Trudeau MM; Dalton JC; Day JW; Ranum LP; Meisler MH
    J Med Genet; 2006 Jun; 43(6):527-30. PubMed ID: 16236810
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.