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...

A multicenter study on Leigh syndrome: disease course and predictors of survival

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52

2014

Volltextzugriff (PDF)

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Proceedings of the National Academy of Sciences - PNAS, 2015-05, Vol.112 (18), p.E2268-E2268

2015

Volltextzugriff (PDF)

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2154-2163

2016

Volltextzugriff (PDF)

Nigrostriatal denervation sine parkinsonism

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.e25-e25

2016

Volltextzugriff (PDF)

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Neuromuscular disorders : NMD, 2023-02, Vol.33 (2), p.119-132

2023

Volltextzugriff (PDF)

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis

Mitochondrion, 2017-05, Vol.34, p.32-35

2017

Volltextzugriff (PDF)

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3627-3634

2012

Volltextzugriff (PDF)

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Mitochondrion, 2017-01, Vol.32, p.10-15

2017

Volltextzugriff (PDF)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Human molecular genetics, 2016-03, Vol.25 (5), p.1031-1041

2016

Volltextzugriff (PDF)

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Developmental medicine and child neurology, 2013-05, Vol.55 (5), p.440-447

2013

Volltextzugriff (PDF)

Mental health and health related quality of life in mitochondrial POLG disease

Mitochondrion, 2020-11, Vol.55, p.95-99

2020

Volltextzugriff (PDF)

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.2948-2963

2015

Volltextzugriff (PDF)

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

Neuromuscular disorders : NMD, 2011-01, Vol.21 (1), p.41-46

2011

Volltextzugriff (PDF)

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3614-3626

2012

Volltextzugriff (PDF)

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

Annals of clinical and translational neurology, 2021-11, Vol.8 (11), p.2155-2165

2021

Volltextzugriff (PDF)

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation

Movement disorders, 2008-08, Vol.23 (11), p.1624-1626

2008

Volltextzugriff (PDF)

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

Biochimica et biophysica acta, 2010-06, Vol.1802 (6), p.539-544

2010

Volltextzugriff (PDF)

Phenotype modulators in myophosphorylase deficiency

Annals of neurology, 2003-04, Vol.53 (4), p.497-502

2003

Volltextzugriff (PDF)

Focal myositis – A neurogenic phenomenon?

Neuromuscular disorders : NMD, 2012-04, Vol.22 (4), p.350-354

2012

Volltextzugriff (PDF)

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

Epilepsy & behavior, 2009-09, Vol.16 (1), p.172-174

2009

Volltextzugriff (PDF)

A novel mitochondrial ND5 ( MTND5 ) gene mutation giving isolated exercise intolerance

Neuromuscular disorders : NMD, 2008-04, Vol.18 (4), p.310-314

2008

Volltextzugriff (PDF)

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

Diabetes care, 1994-07, Vol.17 (7), p.728-733

1994

Volltextzugriff (PDF)

Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation

Neuromuscular disorders : NMD, 2006-10, Vol.16 (9), p.559-563

2006

Volltextzugriff (PDF)

1 – 25 von 42

Suche als RSS-Feed

Aktive Filter

ThemaMutation

ThemaFemale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(42)
Mit Volltextzugriff
(39)

Publikationsform

Artikel
(42)

Sprache

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A multicenter study on Leigh syndrome: disease course and predictors of survival

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Nigrostriatal denervation sine parkinsonism

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Genetic and hypoxic alterations of the microRNA‐210‐ISCU1/2 axis promote iron–sulfur deficiency and pulmonary hypertension

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Mental health and health related quality of life in mitochondrial POLG disease

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

Phenotype modulators in myophosphorylase deficiency

Focal myositis – A neurogenic phenomenon?

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

A novel mitochondrial ND5 ( MTND5 ) gene mutation giving isolated exercise intolerance

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation

Aktive Filter

Suchergebnisse filtern