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Items: 1 to 20 of 99

1.

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.

Dick D, Horvath R, Chinnery PF.

Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484. No abstract available.

2.

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.

Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F.

Neurology. 2000 Apr 11;54(7):1408-14.

PMID:
10751248
3.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x.

4.

An approach to the patient with late-onset cerebellar ataxia.

Fogel BL, Perlman S.

Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635.

PMID:
17057750
5.

An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome.

Kornberg AJ, Shield LK.

J Child Neurol. 1991 Jan;6(1):20-3.

PMID:
2002196
7.

A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.

van Gaalen J, van de Warrenburg BP.

Pract Neurol. 2012 Feb;12(1):14-24. doi: 10.1136/practneurol-2011-000108. Review.

PMID:
22258168
8.

Degenerative ataxias.

Subramony SH.

Curr Opin Neurol. 1994 Aug;7(4):316-22. Review.

PMID:
7952239
9.

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258.

PMID:
22036850
10.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283.

11.

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C.

Orphanet J Rare Dis. 2006 Nov 17;1:47. Review.

12.

Secondary orthostatic tremor in the setting of cerebellar degeneration.

Sarva H, Severt WL, Jacoby N, Pullman SL, Saunders-Pullman R.

J Clin Neurosci. 2016 May;27:173-5. doi: 10.1016/j.jocn.2015.10.027.

PMID:
26765757
13.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M.

JAMA Neurol. 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193.

PMID:
25089919
14.

Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.

Storey E, Forrest SM, Shaw JH, Mitchell P, Gardner RJ.

Arch Neurol. 1999 Jan;56(1):43-50.

PMID:
9923760
15.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6.

PMID:
20821052
16.

Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.

Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA.

J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50.

PMID:
18032455
17.

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.

Pedroso JL, Braga-Neto P, Ricarte IF, Albuquerque MV, Barsottini OG.

Arq Neuropsiquiatr. 2013 Jun;71(6):345-8. doi: 10.1590/0004-282X20130036.

18.

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG.

Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349.

19.

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F.

Arch Neurol. 2003 Jul;60(7):982-8.

PMID:
12873855
20.

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.

Arch Neurol. 2008 Jan;65(1):133-6. doi: 10.1001/archneurol.2007.4.

PMID:
18195151
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