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...

Congenital myopathies: The current status

Indian journal of pathology & microbiology, 2022-05, Vol.65 (5), p.271-276

2022

Volltextzugriff (PDF)

A brief history of the congenital myopathies - the myopathological perspective

Neuromuscular disorders : NMD, 2023-12, Vol.33 (12), p.990-995

2023

Volltextzugriff (PDF)

Current State of Clinical and Morphological Features in Human NCL

Brain pathology (Zurich, Switzerland), 2004-01, Vol.14 (1), p.61-69

2004

Volltextzugriff (PDF)

Recently Identified Congenital Myopathies

Seminars in pediatric neurology, 2019-04, Vol.29, p.83-90

2019

Volltextzugriff (PDF)

Muscle disease: pathology and genetics

Second edition., 2013

Volltextzugriff (PDF)

Congenital myopathy and epidermolysis bullosa due to PLEC variant

Neuromuscular disorders : NMD, 2021-11, Vol.31 (11), p.1212-1217

2021

Volltextzugriff (PDF)

Pathogenic variants in three families with distal muscle involvement

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.58-64

2023

Volltextzugriff (PDF)

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.713-718

2015

Volltextzugriff (PDF)

TPM2 mutation

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.1005-1005

2008

Volltextzugriff (PDF)

Primary desminopathies

Journal of cellular and molecular medicine, 2007-05, Vol.11 (3), p.416-426

2007

Volltextzugriff (PDF)

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Neuromuscular disorders : NMD, 2016-03, Vol.26 (3), p.236-239

2016

Volltextzugriff (PDF)

Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.151-158

2002

Volltextzugriff (PDF)

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

BioMed research international, 2015-01, Vol.2015 (2015), p.1-10

2015

Volltextzugriff (PDF)

Autophagic vacuolar myopathy is a common feature of CLN 3 disease

Annals of clinical and translational neurology, 2018-11, Vol.5 (11), p.1385-1393

2018

Volltextzugriff (PDF)

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Neuromuscular disorders : NMD, 2004-09, Vol.14 (8), p.461-470

2004

Volltextzugriff (PDF)

Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred

Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.357-360

2006

Volltextzugriff (PDF)

Frontotemporal dementia: the post-tau era

Neurology, 2006-08, Vol.67 (4), p.560-561

2006

Volltextzugriff (PDF)

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

Human mutation, 2009-03, Vol.30 (3), p.E490-E499

2009

Volltextzugriff (PDF)

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Acta neuropathologica, 2005-04, Vol.109 (4), p.411-417

2005

Volltextzugriff (PDF)

Protein Aggregate Myopathies

Seminars in pediatric neurology, 2006-06, Vol.13 (2), p.96-103

2006

Volltextzugriff (PDF)

Delayed or late-onset type II glycogenosis with globular inclusions

Acta neuropathologica, 2005-08, Vol.110 (2), p.151-157

2005

Volltextzugriff (PDF)

Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy

Pacing and clinical electrophysiology, 2004-04, Vol.27 (4), p.559-560

2004

Volltextzugriff (PDF)

Congenital myopathies. Introduction

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.213-215

Goebel, Hans H

2011

Volltextzugriff (PDF)

Congenital Myopathies

Brain pathology (Zurich, Switzerland), 2001-04, Vol.11 (2), p.206-217

2001

Volltextzugriff (PDF)

The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) - NCL 2000 20 - 24 September, 2000 Oxford, United Kingdom

Brain Pathology, 2001-04, Vol.11 (2), p.259-260

Goebel, Hans H.

2001

Volltextzugriff (PDF)

1 – 25 von 31

Suche als RSS-Feed

Aktive Filter

ThemaMedical Sciences

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(30)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(30)
Bücher
(1)

Sprache

Englisch
(31)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

Humans
(27)
Life Sciences & Biomedicine
(24)
Science & Technology
(24)
Clinical Neurology
(16)
Neurosciences & Neurology
(16)
Male
(14)
Neurosciences
(14)
Female
(10)
Pathology
(8)
Child
(7)
Muscle, Skeletal - Pathology
(7)
Adult
(6)
Animals
(5)
Desmin - Genetics
(5)
Myopathies, Structural, Congenital - Genetics
(5)
Myopathy
(5)
Pedigree
(5)
Adolescent
(4)
Desminopathy
(4)

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Congenital myopathies: The current status

A brief history of the congenital myopathies - the myopathological perspective

Current State of Clinical and Morphological Features in Human NCL

Recently Identified Congenital Myopathies

Muscle disease: pathology and genetics

Congenital myopathy and epidermolysis bullosa due to PLEC variant

Pathogenic variants in three families with distal muscle involvement

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

TPM2 mutation

Primary desminopathies

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

Autophagic vacuolar myopathy is a common feature of CLN 3 disease

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred

Frontotemporal dementia: the post-tau era

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Protein Aggregate Myopathies

Delayed or late-onset type II glycogenosis with globular inclusions

Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy

Congenital myopathies. Introduction

Congenital Myopathies

The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) - NCL 2000 20 - 24 September, 2000 Oxford, United Kingdom

Aktive Filter

Suchergebnisse filtern