UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 1.766

Sortiert nach

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Neurology, 2009-05, Vol.72 (18), p.1544

2009

Volltextzugriff (PDF)

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Journal of neurology, neurosurgery and psychiatry, 2009-08, Vol.80 (8), p.839-845

2009

Volltextzugriff (PDF)

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

Neurology, 2011-09, Vol.77 (11), p.1035

2011

Volltextzugriff (PDF)

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Neurology, 2011-07, Vol.77 (2), p.168

2011

Volltextzugriff (PDF)

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

Brain (London, England : 1878), 1995-04, Vol.118 (2), p.319-337

1995

Volltextzugriff (PDF)

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

Neurology, 2008-01, Vol.70 (1), p.50

2008

Volltextzugriff (PDF)

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

Journal of medical genetics, 2009-11, Vol.46 (11), p.786-791

2009

Volltextzugriff (PDF)

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

Journal of neurology, 2012-09, Vol.259 (9), p.1874-1878

2012

Volltextzugriff (PDF)

The phenotypic manifestations of chromosome 17p11.2 duplication

Brain (London, England : 1878), 1997-03, Vol.120 (3), p.465-478

1997

Volltextzugriff (PDF)

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

British journal of ophthalmology, 2008-05, Vol.92 (5), p.623-629

2008

Volltextzugriff (PDF)

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

Journal of neurology, neurosurgery and psychiatry, 2004-03, Vol.75 (3), p.448-452

2004

Volltextzugriff (PDF)

Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

Journal of medical genetics, 2007-12, Vol.44 (12), p.797-799

2007

Volltextzugriff (PDF)

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease

Journal of neurology, neurosurgery and psychiatry, 2002-09, Vol.73 (3), p.304-306

2002

Volltextzugriff (PDF)

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

American journal of human genetics, 1995-07, Vol.57 (1), p.77-86

1995

Volltextzugriff (PDF)

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

The Lancet (British edition), 1992-12, Vol.340 (8832), p.1376-1379

1992

Volltextzugriff (PDF)

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

Journal of neurology, neurosurgery and psychiatry, 2003-09, Vol.74 (9), p.1339-1341

2003

Volltextzugriff (PDF)

OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

Brain (London, England : 1878), 1992-08, Vol.115 (4), p.979-989

1992

Volltextzugriff (PDF)

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

The Lancet (British edition), 2000-12, Vol.356 (9247), p.2068-2069

2000

Volltextzugriff (PDF)

Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy

Heart (British Cardiac Society), 2003-07, Vol.89 (7), p.791-792

2003

Volltextzugriff (PDF)

PGC-1β mediates adaptive chemoresistance associated with mitochondrial DNA mutations

Oncogene, 2013-05, Vol.32 (20), p.2592-2600

2013

Volltextzugriff (PDF)

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

Journal of neurology, neurosurgery and psychiatry, 2008-01, Vol.79 (1), p.68-71

2008

Volltextzugriff (PDF)

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: Frequency, clinical and genetic correlates

Brain (London, England : 1878), 1998-03, Vol.121 (3), p.459-467

1998

Volltextzugriff (PDF)

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

Human molecular genetics, 2003-08, Vol.12 (15), p.1917-1925

2003

Volltextzugriff (PDF)

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

Brain (London, England : 1878), 1995-10, Vol.118 (5), p.1077-1085

1995

Volltextzugriff (PDF)

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

The Lancet (British edition), 1991-06, Vol.337 (8753), p.1311-1313

1991

Volltextzugriff (PDF)

1 – 25 von 1.766

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.578)
Mit Volltextzugriff
(1.530)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(1.756)
Japanisch
(228)
Deutsch
(7)
Portugiesisch
(1)
Russisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)
... seit 90 Tagen
(11)

Menü

Weitere Dienste

Einstellungen

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

The phenotypic manifestations of chromosome 17p11.2 duplication

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy

PGC-1β mediates adaptive chemoresistance associated with mitochondrial DNA mutations

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: Frequency, clinical and genetic correlates

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

Suchergebnisse filtern