Detalhe da pesquisa
1.
[Clinical details and genetics of recessive ataxias]. / Klinik und Genetik der rezessiven Ataxien.
Nervenarzt
; 82(4): 447-8, 450-8, 2011 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-20640395
2.
Progressive biological behavior of a dysembryoplastic neuroepithelial tumor.
Pediatr Neurosurg
; 46(4): 294-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21196795
3.
[The catastrophic antiphospholipid antibody syndrome: case report and review of the literature]. / Das katastrophale Antiphospholipid-Antikörper-Syndrom : Fallbericht und Literaturüberblick.
Nervenarzt
; 86(2): 205-9, 2015 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-25637082
4.
Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.
Neuropediatrics
; 39(6): 347-50, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19569000
5.
Screening of the SPTBN2 (SCA5) gene in German SCA patients.
J Neurol
; 254(12): 1649-52, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17940722
6.
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
Brain
; 129(Pt 9): 2341-52, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16760196
7.
[Genetics of oculocutaneous albinism]. / Genetik bei okulokutanem Albinismus.
Ophthalmologe
; 104(8): 674-80, 2007 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-17646993
8.
Secondary pool boiling effects.
Appl Phys Lett
; 1082016.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546153
9.
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
J Mol Med (Berl)
; 78(11): 626-32, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11269509
10.
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
Eur J Hum Genet
; 12(11): 979-82, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15340363
11.
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
Eur J Hum Genet
; 9(3): 160-4, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11313753
12.
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
Eur J Hum Genet
; 11(8): 629-32, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12891385
13.
Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families.
Neurology
; 52(4): 849-51, 1999 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-10078738
14.
Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging.
Neurology
; 46(1): 118-21, 1996 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-8559357
15.
DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland.
Neurology
; 53(4): 801-6, 1999 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-10489044
16.
Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse.
Neuromuscul Disord
; 4(3): 205-17, 1994 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-7522680
17.
Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain.
Brain Res Mol Brain Res
; 83(1-2): 125-7, 2000 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-11072102
18.
hSKCa3: a candidate gene for schizophrenia?
Psychiatr Genet
; 9(2): 91-6, 1999 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10412188
19.
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1.
J Neurol
; 244(2): 105-11, 1997 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9120492
20.
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
J Neurol
; 250(6): 668-71, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12796826