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 *

119 related articles for article (PubMed ID: 8890793)

  • 1. Congenital cerebellar ataxia, mental retardation, and atrophic retinal lesions in two brothers.
    Ferri R; Azan G; Del Gracco S; Elia M; Musumeci SA; Stefanini MC; Toscano G; Setta F
    J Neurol Neurosurg Psychiatry; 1996 Oct; 61(4):424-5. PubMed ID: 8890793
    [No Abstract]   [Full Text] [Related]  

  • 2. Neuro-ophthalmologic findings in humans with quadrupedal locomotion.
    Sarac O; Gulsuner S; Yildiz-Tasci Y; Ozcelik T; Kansu T
    Ophthalmic Genet; 2012 Dec; 33(4):249-52. PubMed ID: 22686558
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.
    Tachi N; Kozuka N; Ohya K; Chiba S; Sasaki K
    Eur Neurol; 2000; 43(2):82-7. PubMed ID: 10686465
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Marinesco-Sjogren syndrome with myopathy.
    Chaco J
    Confin Neurol; 1969; 31(6):349-51. PubMed ID: 5386591
    [No Abstract]   [Full Text] [Related]  

  • 6. Sex-linked recessive congenital ataxia.
    Young ID; Moore JR; Tripp JH
    J Neurol Neurosurg Psychiatry; 1987 Sep; 50(9):1230-2. PubMed ID: 3668574
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
    Faivre L; Radford I; Viot G; Edery P; Munnich A; Tardieu M; Vekemans M
    Ann Genet; 2000; 43(1):35-8. PubMed ID: 10818219
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
    Kate MP; Kesavadas C; Nair M; Krishnan S; Soman M; Singh A
    J Neurol Neurosurg Psychiatry; 2011 Aug; 82(8):888-91. PubMed ID: 20587490
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
    François J; Lentini F; de Rouck F
    Ophthalmic Paediatr Genet; 1984 Apr; 4(1):29-32. PubMed ID: 6544390
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial cerebellar ataxia with hypogonadism.
    Lowenthal A; Bekaert J; Van Dessel F; van Hauwaert J
    J Neurol; 1979; 222(2):75-80. PubMed ID: 93634
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms].
    Pehlke JR; Venkataramani V; Emmert S; Mohr A; Zoll B; Nau R
    Fortschr Neurol Psychiatr; 2013 Jan; 81(1):40-3. PubMed ID: 23340970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.
    Terao Y; Saitsu H; Segawa M; Kondo Y; Sakamoto K; Matsumoto N; Tsuji S; Nomura Y
    J Neurol Sci; 2012 Sep; 320(1-2):102-5. PubMed ID: 22819058
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new form of familial ataxia, deafness, and mental retardation.
    Reardon W; Wilson J; Cavanagh N; Baraitser M
    J Med Genet; 1993 Aug; 30(8):694-5. PubMed ID: 8411058
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gillespie syndrome with impaired accommodation.
    Agarwal PK; Awan MA; Dutton GN; Strang N
    J Pediatr Ophthalmol Strabismus; 2009; 46(1):60. PubMed ID: 19213284
    [No Abstract]   [Full Text] [Related]  

  • 15. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
    Delague V; Bareil C; Bouvagnet P; Salem N; Chouery E; Loiselet J; Mégarbané A; Claustres M
    Neurogenetics; 2002 Mar; 4(1):23-7. PubMed ID: 12030328
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
    Scuderi C; Saccuzzo L; Vinci M; Castiglia L; Galesi O; Salemi M; Mattina T; Borgione E; Città S; Romano C; Fichera M
    Eur J Hum Genet; 2019 Apr; 27(4):594-602. PubMed ID: 30659260
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
    Kawarai T; Tajima A; Kuroda Y; Saji N; Orlacchio A; Terasawa H; Shimizu H; Kita Y; Izumi Y; Mitsui T; Imoto I; Kaji R
    J Neurol Neurosurg Psychiatry; 2016 Jun; 87(6):656-62. PubMed ID: 26157035
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
    Utine GE; Haliloğlu G; Salanci B; Çetinkaya A; Kiper PÖ; Alanay Y; Aktas D; Boduroğlu K; Alikaşifoğlu M
    J Child Neurol; 2013 Jul; 28(7):926-32. PubMed ID: 23611888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
    Schlotawa L; Hotz A; Zeschnigk C; Hartmann B; Gärtner J; Morris-Rosendahl D
    J Neurol; 2013 Jun; 260(6):1678-80. PubMed ID: 23670308
    [No Abstract]   [Full Text] [Related]  

  • 20. Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.
    O'Dwyer JP; Clabby C; Crown J; Barton DE; Hutchinson M
    Neurology; 2005 Jul; 65(2):331-2. PubMed ID: 16043816
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.