UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 44

Sortiert nach

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1402-1404

2009

Link zum Volltext

Verfügbarkeit prüfen

The aetiology of sporadic adult-onset ataxia

Brain (London, England : 1878), 2002-05, Vol.125 (5), p.961-968

2002

Link zum Volltext

Verfügbarkeit prüfen

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Neurology, 1998-12, Vol.51 (6), p.1603

1998

Link zum Volltext

Verfügbarkeit prüfen

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

Neurobiology of disease, 2010-05, Vol.38 (2), p.192-200

2010

Link zum Volltext

Verfügbarkeit prüfen

The natural history of degenerative ataxia : a retrospective study in 466 patients

Brain (London, England : 1878), 1998-04, Vol.121 (4), p.589-600

1998

Link zum Volltext

Verfügbarkeit prüfen

Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Journal of neurology, neurosurgery and psychiatry, 1999-02, Vol.66 (2), p.222-224

1999

Link zum Volltext

Verfügbarkeit prüfen

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant

Onkologie, 2004-12, Vol.27 (6), p.559

2004

Link zum Volltext

Verfügbarkeit prüfen

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Neurology, 1999-09, Vol.53 (4), p.801

1999

Link zum Volltext

Verfügbarkeit prüfen

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Nature genetics, 1999-12, Vol.23 (4), p.391-392

1999

Link zum Volltext

Verfügbarkeit prüfen

Protocol and Methodology of the Stroke in Young Fabry Patients (sifap1) Study: A Prospective Multicenter European Study of 5,024 Young Stroke Patients Aged 18–55 Years

Cerebrovascular diseases (Basel, Switzerland), 2011-01, Vol.31 (3), p.253-262

2011

Link zum Volltext

Verfügbarkeit prüfen

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.160-164

2001

Link zum Volltext

Verfügbarkeit prüfen

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

Human genetics, 1995-02, Vol.95 (2), p.231-232

1995

Link zum Volltext

Verfügbarkeit prüfen

Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence

Psychiatric genetics, 1999-06, Vol.9 (2), p.69-74

1999

Link zum Volltext

Verfügbarkeit prüfen

Relationships of the 2642 deletion polymorphism (delta 2642) in the huntingtin gene with the CAG repeat expansion length and age at onset of the disease

Genetic counseling, 1996, Vol.7 (4), p.297

1996

Link zum Volltext

Verfügbarkeit prüfen

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Journal of neurology, neurosurgery and psychiatry, 1996-11, Vol.61 (5), p.466-470

1996

Link zum Volltext

Verfügbarkeit prüfen

Mutation at the SCA17 locus is not a common cause of primary dystonia

Journal of neurology, 2004-10, Vol.251 (10), p.1232-1234

2004

Link zum Volltext

Verfügbarkeit prüfen

Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern europe [CFTRdele2,3(21 kb)]

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2005-01, Vol.5 (1), p.92-96

2005

Link zum Volltext

Verfügbarkeit prüfen

Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families

Human molecular genetics, 1993-09, Vol.2 (9), p.1475-1476

1993

Link zum Volltext

Verfügbarkeit prüfen

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

Journal of neurology, neurosurgery and psychiatry, 1995-10, Vol.59 (4), p.449-450

1995

Link zum Volltext

Verfügbarkeit prüfen

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin

Human molecular genetics, 1993-09, Vol.2 (9), p.1467-1469

1993

Link zum Volltext

Verfügbarkeit prüfen

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

Nature genetics, 1992-11, Vol.2 (3), p.216-222

1992

Link zum Volltext

Verfügbarkeit prüfen

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4

American journal of human genetics, 1995-11, Vol.57 (5), p.1137-1142

1995

Link zum Volltext

Verfügbarkeit prüfen

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

Archives of neurology (Chicago), 1997-09, Vol.54 (9), p.1073

1997

Link zum Volltext

Verfügbarkeit prüfen

"When I was circumcised I was taught certain things": risk compensation and protective sexual behavior among circumcised men in Kisumu, Kenya

PloS one, 2010-08, Vol.5 (8), p.e12366-e12366

2010

Link zum Volltext

Verfügbarkeit prüfen

Increasing body mass index predicts increasing difficulty, failure rate, and time to discovery of failure of epidural anesthesia in laboring patients

Journal of clinical anesthesia, 2017-02, Vol.37, p.154-158

2017

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 44

Suche als RSS-Feed

Aktive Filter

KollektionWiley Online Library

ThemaGenetics

ThemaParkinson Disease - Genetics

ThemaAdult

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(43)
Mit Volltextzugriff
(33)

Publikationsform

Artikel
(44)

Sprache

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

The aetiology of sporadic adult-onset ataxia

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

The natural history of degenerative ataxia : a retrospective study in 466 patients

Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Protocol and Methodology of the Stroke in Young Fabry Patients (sifap1) Study: A Prospective Multicenter European Study of 5,024 Young Stroke Patients Aged 18–55 Years

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence

Relationships of the 2642 deletion polymorphism (delta 2642) in the huntingtin gene with the CAG repeat expansion length and age at onset of the disease

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Mutation at the SCA17 locus is not a common cause of primary dystonia

Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern europe [CFTRdele2,3(21 kb)]

Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

"When I was circumcised I was taught certain things": risk compensation and protective sexual behavior among circumcised men in Kisumu, Kenya

Increasing body mass index predicts increasing difficulty, failure rate, and time to discovery of failure of epidural anesthesia in laboring patients

Aktive Filter

Suchergebnisse filtern