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: an update

Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.297-302

Claeys, Kristl G

2020

Volltextzugriff (PDF)

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome

JAMA neurology, 2017-01, Vol.74 (1), p.26

2017

Volltextzugriff (PDF)

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.1338-1346

2019

Volltextzugriff (PDF)

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy

Neurology, 2015-03, Vol.84 (13), p.1346-1354

2015

Volltextzugriff (PDF)

Automated MRI quantification of volumetric per-muscle fat fractions in the proximal leg of patients with muscular dystrophies

Frontiers in neurology, 2023-05, Vol.14, p.1200727-1200727

2023

Volltextzugriff (PDF)

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.154-154, Article 154

2024

Volltextzugriff (PDF)

Towards a functional pathology of hereditary neuropathies

Acta Neuropathologica, 2017-04, Vol.133 (4), p.493-515

2017

Volltextzugriff (PDF)

Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1241-1251

2022

Volltextzugriff (PDF)

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Journal of neurology, 2016-05, Vol.263 (5), p.961-972

2016

Volltextzugriff (PDF)

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Human mutation, 2021-03, Vol.42 (3), p.310-319

2021

Volltextzugriff (PDF)

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.86-86, Article 86

2017

Volltextzugriff (PDF)

Limb girdle muscular dystrophy due to mutations in POMT2

Journal of neurology, neurosurgery and psychiatry, 2018-05, Vol.89 (5), p.506-512

2018

Volltextzugriff (PDF)

Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG)

BMJ open, 2023-05, Vol.13 (5), p.e068104-e068104

2023

Volltextzugriff (PDF)

Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12

Journal of cachexia, sarcopenia and muscle, 2023-06, Vol.14 (3), p.1468-1481

2023

Volltextzugriff (PDF)

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.11-11, Article 11

2020

Volltextzugriff (PDF)

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Journal of neurology, 2019-03, Vol.266 (3), p.680-690

2019

Volltextzugriff (PDF)

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

Journal of neurology, 2017-06, Vol.264 (6), p.1193-1203

2017

Volltextzugriff (PDF)

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

PloS one, 2017-01, Vol.12 (1), p.e0170583

2017

Volltextzugriff (PDF)

Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

BMJ open, 2023-01, Vol.13 (1), p.e066445-e066445

2023

Volltextzugriff (PDF)

Author Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neurology, 2023-02, Vol.100 (7), p.354-354

2023

Volltextzugriff (PDF)

Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix

European journal of medical research, 2017-09, Vol.22 (1), p.34-34, Article 34

2017

Volltextzugriff (PDF)

Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients

Cells (Basel, Switzerland), 2022-01, Vol.11 (3), p.334

2022

Volltextzugriff (PDF)

Small fiber involvement is independent from clinical pain in late-onset Pompe disease

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.177-177, Article 177

2022

Volltextzugriff (PDF)

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Acta neuropathologica communications, 2022-12, Vol.10 (1), p.185-185, Article 185

2022

Volltextzugriff (PDF)

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

Acta neurologica Belgica, 2019-03, Vol.119 (1), p.29-36

2019

Volltextzugriff (PDF)

1 – 25 von 151

Suche als RSS-Feed

Aktive Filter

Zeitschrift / SerieNeuromuscular Disorders : Nmd

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(133)
Mit Volltextzugriff
(126)

Publikationsform

Sprache

Englisch
(151)
Japanisch
(29)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(5)
... seit 90 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

Congenital myopathies: an update

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy

Automated MRI quantification of volumetric per-muscle fat fractions in the proximal leg of patients with muscular dystrophies

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

Towards a functional pathology of hereditary neuropathies

Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Limb girdle muscular dystrophy due to mutations in POMT2

Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG)

Histopathological correlations and fat replacement imaging patterns in recessive limb‐girdle muscular dystrophy type 12

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

Author Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Clinical and biometrical 12-month follow-up in patients after reconstruction of the sural nerve biopsy defect by the collagen-based nerve guide Neuromaix

Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients

Small fiber involvement is independent from clinical pain in late-onset Pompe disease

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Clinical spectrum of the anti-GQ1b antibody syndrome: a case series of eight patients

Aktive Filter

Suchergebnisse filtern