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...

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2019-02, Vol.90 (2), p.157-164

2019

Volltextzugriff (PDF)

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis

Annals of neurology, 2016-01, Vol.79 (1), p.152-158

2016

Volltextzugriff (PDF)

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.12-20

2016

Volltextzugriff (PDF)

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

PloS one, 2018-05, Vol.13 (5), p.e0197329-e0197329

2018

Volltextzugriff (PDF)

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Journal of neurology, neurosurgery and psychiatry, 2018-08, Vol.89 (8), p.817-827

2018

Volltextzugriff (PDF)

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

EMBO molecular medicine, 2019-12, Vol.11 (12), p.e11115-n/a

2019

Volltextzugriff (PDF)

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Scientific reports, 2021-10, Vol.11 (1), p.20178-20178, Article 20178

2021

Volltextzugriff (PDF)

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

Breast cancer research : BCR, 2019-04, Vol.21 (1), p.55-55, Article 55

2019

Volltextzugriff (PDF)

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

Neurobiology of aging, 2015-11, Vol.36 (11), p.3117.e1-3117.e6

2015

Volltextzugriff (PDF)

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

PloS one, 2013-02, Vol.8 (2), p.e56899

2013

Volltextzugriff (PDF)

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

Neurobiology of aging, 2014-05, Vol.35 (5), p.1214.e1-1214.e6

2014

Volltextzugriff (PDF)

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

Neurobiology of aging, 2013-06, Vol.34 (6), p.1708.e1-1708.e6

2013

Volltextzugriff (PDF)

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

American journal of human genetics, 2012-11, Vol.91 (5), p.919-927

2012

Volltextzugriff (PDF)

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

BMC gastroenterology, 2020-05, Vol.20 (1), p.129-6, Article 129

2020

Volltextzugriff (PDF)

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

EMBO molecular medicine, 2022-08, Vol.14 (8), p.e16423-n/a

2022

Volltextzugriff (PDF)

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

Journal of the neurological sciences, 2014-12, Vol.347 (1), p.352-355

2014

Volltextzugriff (PDF)

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

Current opinion in neurology, 2017-10, Vol.30 (5), p.523-528

2017

Volltextzugriff (PDF)

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63515-n/a

2024

Volltextzugriff (PDF)

Complex structural variation and nonsense variant in trans cause VPS50-related disorder

Journal of medical genetics, 2024-06, Vol.61 (9), p.833-838

2024

Volltextzugriff (PDF)

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

Journal of neurology, neurosurgery and psychiatry, 2019-01, Vol.90 (1), p.4-10

2019

Volltextzugriff (PDF)

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Genetics in Medicine Open, 2023, Vol.1 (1), p.100811-100811, Article 100811

2023

Volltextzugriff (PDF)

Neurodegenerative Erkrankungen

Medizinische Genetik, 2018, Vol.30 (2), p.229-230

2018

Volltextzugriff (PDF)

1 – 25 von 142

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(128)
Mit Volltextzugriff
(122)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype

Complex structural variation and nonsense variant in trans cause VPS50-related disorder

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Hot-spot KIF5A mutations cause familial ALS

Neurodegenerative Erkrankungen

Suchergebnisse filtern