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...

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons

Brain (London, England : 1878), 2022-11, Vol.145 (11), p.4016-4031

2022

Volltextzugriff (PDF)

Stopping oral steroid-sparing agents at initiation of rituximab in myasthenia gravis

Neuromuscular disorders : NMD, 2019-07, Vol.29 (7), p.554-561

2019

Volltextzugriff (PDF)

Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

The Journal of cell biology, 2012-05, Vol.197 (4), p.535-551

2012

Volltextzugriff (PDF)

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Human molecular genetics, 2015-09, Vol.24 (17), p.4984-4996

2015

Volltextzugriff (PDF)

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study

Proceedings of the National Academy of Sciences - PNAS, 2022-02, Vol.119 (5)

2022

Volltextzugriff (PDF)

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Human mutation, 2013-01, Vol.34 (1), p.191-199

2013

Volltextzugriff (PDF)

Mitochondrial dysfunction in HIV-induced peripheral neuropathy

International review of neurobiology, 2019, Vol.145, p.67-82

2019

Volltextzugriff (PDF)

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of neurology, neurosurgery and psychiatry, 2021-11, Vol.92 (11), p.1186-1196

2021

Volltextzugriff (PDF)

Large Mitochondrial DNA Deletions in HIV Sensory Neuropathy

Neurology, 2021-07, Vol.97 (2), p.e156

2021

Volltextzugriff (PDF)

Myopathy: Recent Progress, Current Therapies, and Future Directions

Neurotherapeutics, 2018-10, Vol.15 (4), p.837-839

2018

Volltextzugriff (PDF)

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype

Journal of neuromuscular diseases, 2023-01, Vol.10 (1), p.107-118

2023

Volltextzugriff (PDF)

Fragile X Tremor Ataxia Syndrome With Rapidly Progressive Myopathy

JAMA neurology, 2015-08, Vol.72 (8), p.946

2015

Volltextzugriff (PDF)

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

Annals of clinical and translational neurology, 2017-11, Vol.4 (11), p.821-824

2017

Volltextzugriff (PDF)

Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy

Annals of clinical and translational neurology, 2021-04, Vol.8 (4), p.825-830

2021

Volltextzugriff (PDF)

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Journal of clinical neuroscience, 2014-09, Vol.21 (9), p.1627-1631

2014

Volltextzugriff (PDF)

Successful Treatment of Paraneoplastic Neuropathy and Pruritis With Scrambler Therapy: A Case Report

Curēus (Palo Alto, CA), 2022-07

2022

Volltextzugriff (PDF)

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Annals of clinical and translational neurology, 2017-05, Vol.4 (5), p.347-350

2017

Volltextzugriff (PDF)

SCA8 should not be tested in isolation for ataxia

Neurology. Genetics, 2017-06, Vol.3 (3), p.e150-e150

2017

Volltextzugriff (PDF)

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

Neurology. Genetics, 2018-02, Vol.4 (1), p.e220-e220

2018

Volltextzugriff (PDF)

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Neurology. Genetics, 2016-10, Vol.2 (5), p.e98-e98

2016

Volltextzugriff (PDF)

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Annals of clinical and translational neurology, 2016-08, Vol.3 (8), p.650-654

2016

Volltextzugriff (PDF)

Rhodococcus equi pulmonary–central nervous system syndrome: brain abscess in a patient on high-dose steroids—a case report and review of the literature

Diagnostic microbiology and infectious disease, 2009-01, Vol.63 (1), p.96-99

2009

Volltextzugriff (PDF)

Role of the Reverse Transcriptase, Nucleocapsid Protein, and Template Structure in the Two-step Transfer Mechanism in Retroviral Recombination

The Journal of biological chemistry, 2003-08, Vol.278 (34), p.31536-31546

2003

Volltextzugriff (PDF)

Strand Transfer Occurs in Retroviruses by a Pause-initiated Two-step Mechanism

The Journal of biological chemistry, 2002-12, Vol.277 (49), p.46900-46911

2002

Volltextzugriff (PDF)

Teleneurology during the COVID-19 pandemic: A step forward in modernizing medical care

Journal of the neurological sciences, 2020-07, Vol.414, p.116930-116930, Article 116930

2020

Volltextzugriff (PDF)

1 – 25 von 117

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(95)
Mit Volltextzugriff
(99)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons

Stopping oral steroid-sparing agents at initiation of rituximab in myasthenia gravis

Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Mitochondrial dysfunction in HIV-induced peripheral neuropathy

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Large Mitochondrial DNA Deletions in HIV Sensory Neuropathy

Myopathy: Recent Progress, Current Therapies, and Future Directions

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype

Fragile X Tremor Ataxia Syndrome With Rapidly Progressive Myopathy

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Successful Treatment of Paraneoplastic Neuropathy and Pruritis With Scrambler Therapy: A Case Report

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

SCA8 should not be tested in isolation for ataxia

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Rhodococcus equi pulmonary–central nervous system syndrome: brain abscess in a patient on high-dose steroids—a case report and review of the literature

Role of the Reverse Transcriptase, Nucleocapsid Protein, and Template Structure in the Two-step Transfer Mechanism in Retroviral Recombination

Strand Transfer Occurs in Retroviruses by a Pause-initiated Two-step Mechanism

Teleneurology during the COVID-19 pandemic: A step forward in modernizing medical care

Suchergebnisse filtern