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...

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

European journal of neurology, 2015-07, Vol.22 (7), p.1094-1112

2015

Volltextzugriff (PDF)

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Journal of neurology, 2019-04, Vol.266 (4), p.876-887

2019

Volltextzugriff (PDF)

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Acta neurologica Scandinavica, 2018-05, Vol.137 (5), p.452-461

2018

Volltextzugriff (PDF)

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

Volltextzugriff (PDF)

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

BMC neurology, 2024-10, Vol.24 (1), p.409-11, Article 409

2024

Volltextzugriff (PDF)

Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene

Journal of the neurological sciences, 2017-07, Vol.378, p.175-176

2017

Volltextzugriff (PDF)

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Neuromuscular disorders : NMD, 2019-01, Vol.29 (1), p.30-38

2019

Volltextzugriff (PDF)

Autosomal recessive inheritance of GLUT1 deficiency syndrome

Neuropediatrics, 2009-10, Vol.40 (5), p.207-210

2009

Volltextzugriff (PDF)

The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant

Neuromuscular disorders : NMD, 2024-02, Vol.35, p.40-41

2024

Volltextzugriff (PDF)

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

European journal of neurology, 2021-02, Vol.28 (2), p.647-659

2021

Volltextzugriff (PDF)

An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization

International journal of molecular sciences, 2023-07, Vol.24 (13), p.10924

2023

Volltextzugriff (PDF)

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

European journal of endocrinology, 2011-07, Vol.165 (1), p.161-165

2011

Volltextzugriff (PDF)

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Clinical genetics, 2008-08, Vol.74 (2), p.145-154

2008

Volltextzugriff (PDF)

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

Neuromuscular disorders : NMD, 2018-05, Vol.28 (5), p.402-407

2018

Volltextzugriff (PDF)

The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

The Journal of cell biology, 2000-11, Vol.151 (4), p.919-929

2000

Volltextzugriff (PDF)

Hereditary spastic paraplegia caused by a mutation in the VCP gene

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.e223-e223

2012

Volltextzugriff (PDF)

RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

British journal of anaesthesia : BJA, 2021-08, Vol.127 (2), p.e63-e65

2021

Volltextzugriff (PDF)

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.944-954

2012

Volltextzugriff (PDF)

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Journal of genetic counseling, 2016-12, Vol.25 (6), p.1207-1214

2016

Volltextzugriff (PDF)

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

Neuromuscular disorders : NMD, 2020-12, Vol.30 (12), p.949-958

2020

Volltextzugriff (PDF)

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-5

2017

Volltextzugriff (PDF)

GLUT1 deficiency syndrome into adulthood: a follow-up study

Journal of neurology, 2014-03, Vol.261 (3), p.589-599

2014

Volltextzugriff (PDF)

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Neuropediatrics, 2020-04, Vol.51 (2), p.146-153

2020

Volltextzugriff (PDF)

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Nature genetics, 1996-04, Vol.12 (4), p.445-447

1996

Volltextzugriff (PDF)

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

The Journal of clinical investigation, 1998-07, Vol.102 (1), p.57-66

1998

Volltextzugriff (PDF)

1 – 25 von 77

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(73)
Mit Volltextzugriff
(72)

Publikationsform

Artikel
(73)
Berichte
(4)

Sprache

Englisch
(77)

Erscheinungsjahr

n.n

Thema

Science & Technology
(59)
Life Sciences & Biomedicine
(58)
Humans
(47)
Female
(27)
Mutation
(25)
Male
(23)
Clinical Neurology
(22)
Neurosciences & Neurology
(22)
Animals
(18)
Neurosciences
(17)
Phenotype
(17)
Neurology
(16)
Adult
(15)
Biological And Medical Sciences
(15)
Medical Sciences
(15)
Aquaporin 2
(14)
Aquaporin 6
(13)
Aquaporins - Genetics
(13)
Diabetes Insipidus, Nephrogenic - Genetics
(13)
Child
(12)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study

Autosomal recessive inheritance of GLUT1 deficiency syndrome

The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers

Hereditary spastic paraplegia caused by a mutation in the VCP gene

RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

GLUT1 deficiency syndrome into adulthood: a follow-up study

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

Suchergebnisse filtern