UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 25

Sortiert nach

Mitochondrial Encephalomyopathies

Journal of neuropathology and experimental neurology, 2003-03, Vol.62 (3), p.217-227

2003

Link zum Volltext

Verfügbarkeit prüfen

Quality of life of patients with spinal muscular atrophy: A systematic review

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.347-356

2019

Link zum Volltext

Verfügbarkeit prüfen

Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death

Journal of neurology, 2024-04

2024

Link zum Volltext

Verfügbarkeit prüfen

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.574-582

2021

Link zum Volltext

Verfügbarkeit prüfen

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Muscle & nerve, 2013-09, Vol.48 (3), p.357-368

2013

Link zum Volltext

Verfügbarkeit prüfen

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

Neuromuscular disorders : NMD, 2009-02, Vol.19 (2), p.147-150

2009

Link zum Volltext

Verfügbarkeit prüfen

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Journal of neurology, 2014-05, Vol.261 (5), p.870-876

2014

Link zum Volltext

Verfügbarkeit prüfen

Comparison of ambulatory capacity and disease progression of duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.203-213

2017

Link zum Volltext

Verfügbarkeit prüfen

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.843-847

2017

Link zum Volltext

Verfügbarkeit prüfen

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

Neurology, 2007-03, Vol.68 (10), p.772

2007

Link zum Volltext

Verfügbarkeit prüfen

Early onset cardiomyopathy in females with Danon disease

Neuromuscular disorders : NMD, 2015-06, Vol.25 (6), p.493-501

2015

Link zum Volltext

Verfügbarkeit prüfen

A multinational study on motor function in early-onset FSHD

Neurology, 2018-04, Vol.90 (15), p.e1333

2018

Link zum Volltext

Verfügbarkeit prüfen

Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

The Journal of physiology, 2007-06, Vol.581 (3), p.1283-1292

2007

Link zum Volltext

Verfügbarkeit prüfen

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

Link zum Volltext

Verfügbarkeit prüfen

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.830-838

2006

Link zum Volltext

Verfügbarkeit prüfen

Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Neuromuscular disorders : NMD, 2005-06, Vol.15 (6), p.412-415

2005

Link zum Volltext

Verfügbarkeit prüfen

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I

European journal of paediatric neurology, 2007-11, Vol.11 (6), p.353-357

2007

Link zum Volltext

Verfügbarkeit prüfen

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

Neurology, 2006-08, Vol.67 (4), p.597

2006

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Neuromuscular disorders : NMD, 2006-08, Vol.16 (8), p.504-506

2006

Link zum Volltext

Verfügbarkeit prüfen

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.345-349

1998

Link zum Volltext

Verfügbarkeit prüfen

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Acta neuropathologica, 1995, Vol.90 (3), p.328-333

1995

Link zum Volltext

Verfügbarkeit prüfen

Early-onset myopathy with tubular aggregates

Pediatric neurology, 1996-07, Vol.15 (1), p.68-71

1996

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial myopathy and cardiomyopathy in siblings

Pediatric neurology, 1989-05, Vol.5 (3), p.182-189

1989

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 25

Suche als RSS-Feed

Aktive Filter

ThemaChild, Preschool

ThemaNeurosciences & Neurology

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(25)
Mit Volltextzugriff
(22)

Publikationsform

Artikel
(25)

Sprache

Englisch
(25)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(25)
Science & Technology
(25)
Clinical Neurology
(24)
Humans
(20)
Neurology
(17)
Neurosciences
(17)
Female
(14)
Male
(12)
Mutation
(12)
Medicin Och Hälsovetenskap
(10)
Adolescent
(9)
Adult
(7)
Medical And Health Sciences
(7)
Pediatrics
(7)
Medical Sciences
(6)
Medicine
(6)
Biological And Medical Sciences
(5)
Child
(5)
Diseases Of Striated Muscles. Neuromuscular Diseases
(5)

14 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mitochondrial Encephalomyopathies

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

Quality of life of patients with spinal muscular atrophy: A systematic review

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Comparison of ambulatory capacity and disease progression of duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

Early onset cardiomyopathy in females with Danon disease

A multinational study on motor function in early-onset FSHD

Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Early-onset myopathy with tubular aggregates

Mitochondrial myopathy and cardiomyopathy in siblings

Aktive Filter

Suchergebnisse filtern