UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

alpha-Synuclein and Parkinson disease susceptibility

Neurology, 2007-10, Vol.69 (18), p.1745-1750

2007

Volltextzugriff (PDF)

Myoclonus-dystonia: significance of large SGCE deletions

Human mutation, 2008-02, Vol.29 (2), p.331-332

2008

Volltextzugriff (PDF)

Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia

Neurology, 2007-08, Vol.69 (9), p.842-850

2007

Volltextzugriff (PDF)

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles

Journal of neurology, 2007-10, Vol.254 (10), p.1407-1413

2007

Volltextzugriff (PDF)

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

Neurology, 2004-02, Vol.62 (3), p.389-394

2004

Volltextzugriff (PDF)

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

Journal of neurology, neurosurgery and psychiatry, 2006-01, Vol.77 (1), p.18-23

2006

Volltextzugriff (PDF)

Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2281-2290

2005

Volltextzugriff (PDF)

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

Neurology, 2005-03, Vol.64 (5), p.908-911

2005

Volltextzugriff (PDF)

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

Neurology, 2002-04, Vol.58 (8), p.1239-1246

2002

Volltextzugriff (PDF)

Dominantly transmitted focal dystonia in families of patients with musician's cramp

Neurology, 2006-08, Vol.67 (4), p.691-693

2006

Volltextzugriff (PDF)

The importance of gene dosage studies : mutational analysis of the Parkin gene in early-onset parkinsonism

Human molecular genetics, 2001-08, Vol.10 (16), p.1649-1656

2001

Volltextzugriff (PDF)

Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?

Neurology, 2008-02, Vol.70 (9), p.686-694

2008

Volltextzugriff (PDF)

Mutations in DYT1: extension of the phenotypic and mutational spectrum

Neurology, 2004-02, Vol.62 (3), p.395-400

2004

Volltextzugriff (PDF)

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

Neurology, 2006-11, Vol.67 (9), p.1677-1680

2006

Volltextzugriff (PDF)

Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography

Neurology, 2006-06, Vol.66 (12), p.1951-1952

2006

Volltextzugriff (PDF)

Genetic heterogeneity in ten families with myoclonus-dystonia

Journal of neurology, neurosurgery and psychiatry, 2004-08, Vol.75 (8), p.1181-1185

2004

Volltextzugriff (PDF)

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Neurology, 2006-03, Vol.66 (5), p.759-761

2006

Volltextzugriff (PDF)

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.979-982

2004

Volltextzugriff (PDF)

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family

Journal of neurology, neurosurgery and psychiatry, 2005-06, Vol.76 (6), p.860-862

2005

Volltextzugriff (PDF)

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

Journal of neurology, 2006-08, Vol.253 (8), p.1071-1075

2006

Volltextzugriff (PDF)

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

Neurology, 2004-04, Vol.62 (7), p.1229-1231

2004

Volltextzugriff (PDF)

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Neurology, 2002-12, Vol.59 (11), p.1783-1786

2002

Volltextzugriff (PDF)

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

Annals of neurology, 2005-09, Vol.58 (3), p.411-422

2005

Volltextzugriff (PDF)

Modified somatosensory processing in PINK1 ( PARK6 )-mutation carriers: Preclinical evidence by the use of quantitative sensory testing (QST)

Clinical neurophysiology, 2007-04, Vol.118 (4), p.e71-e71

2007

Volltextzugriff (PDF)

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study

Neurology, 2002-03, Vol.58 (5), p.808-810

2002

Volltextzugriff (PDF)

1 – 25 von 267

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(246)
Mit Volltextzugriff
(204)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(175)
Life Sciences & Biomedicine
(147)
Biological And Medical Sciences
(87)
Female
(78)
Humans
(76)
Animals
(66)
Male
(63)
Medical Sciences
(47)
Fundamental And Applied Biological Sciences. Psychology
(43)
Adult
(41)
Mutation
(38)
Neurosciences & Neurology
(38)
Rats
(38)
Clinical Neurology
(37)
Neurology
(34)
Middle Aged
(29)
Immunology
(27)
Plant Sciences
(26)
Molecular Sequence Data
(25)
Age Of Onset
(22)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

alpha-Synuclein and Parkinson disease susceptibility

Myoclonus-dystonia: significance of large SGCE deletions

Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations

Dominantly transmitted focal dystonia in families of patients with musician's cramp

The importance of gene dosage studies : mutational analysis of the Parkin gene in early-onset parkinsonism

Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?

Mutations in DYT1: extension of the phenotypic and mutational spectrum

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography

Genetic heterogeneity in ten families with myoclonus-dystonia

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

Modified somatosensory processing in PINK1 ( PARK6 )-mutation carriers: Preclinical evidence by the use of quantitative sensory testing (QST)

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study

Suchergebnisse filtern