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...

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

Neuromuscular disorders : NMD, 2022-12, Vol.32 (11-12), p.923-930

2022

Volltextzugriff (PDF)

Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

European journal of neurology, 2024-07, Vol.31 (7), p.e16292-n/a

2024

Volltextzugriff (PDF)

Strategy for genetic analysis in hereditary neuropathy

Revue neurologique, 2023-01, Vol.179 (1-2), p.10-29

2023

Volltextzugriff (PDF)

Current clinical management of CIDP with immunoglobulins in France: An expert opinion

Revue neurologique, 2023-10, Vol.179 (8), p.914-922

2023

Volltextzugriff (PDF)

587P White matter lesions and genetic muscular diseases: an overview

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.342

2024

Volltextzugriff (PDF)

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.136 POMT2 homozygous mutation presenting as intellectual deficiency and isolated elevated CK in siblings

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S86-S86

2020

Volltextzugriff (PDF)

LIMB GIRDLE MUSCULAR DYSTROPHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S86

2020

Volltextzugriff (PDF)

Maladie de Whipple avec atteinte neurologique centrale multifocale et périphérique motrice pure

Revue neurologique, 2014-04, Vol.170, p.A162-A162

2014

Volltextzugriff (PDF)

531P The French registry of glycogen storage disease type 3

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.707

2024

Volltextzugriff (PDF)

Un train peut en cacher deux autres

Revue neurologique, 2013-04, Vol.169, p.A149-A150

2013

Volltextzugriff (PDF)

VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S78

2022

Volltextzugriff (PDF)

EP.08Highly asymmetrical distribution of muscle wasting correlated with heteroplasmy level in a patient suffering from a mitochondrial myopathy with single deletion of mitochondrial DNA

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S72-S72

2019

Volltextzugriff (PDF)

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Brain (London, England : 1878), 2024-11, Vol.147 (11), p.3849-3862

2024

Volltextzugriff (PDF)

P351 Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S183-S183

2023

Volltextzugriff (PDF)

FSHD / OPMD / MYOTONIC DYSTROPHY: P.223 Specific biopsy findings: a key factor in the diagnosis of OPMD presenting with isolated dropping head syndrome

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S111-S111

2020

Volltextzugriff (PDF)

FSHD / OPMD / MYOTONIC DYSTROPHY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S111

2020

Volltextzugriff (PDF)

VP429 Impaired skeletal muscle strength in adult patients with laminopathies

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S159-S160

2023

Volltextzugriff (PDF)

Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy

European heart journal, 2021-10, Vol.42 (Supplement_1)

2021

Volltextzugriff (PDF)

70P Defining the landscape of TIA1 and SQSTM1 digenic myopathy

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.424

2024

Volltextzugriff (PDF)

P.100Pseudo-increment at repetitive nerve stimulation (Arzel's sign): a new tool for Brody myopathy diagnosis

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S70-S70

2019

Volltextzugriff (PDF)

Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S148

2017

Volltextzugriff (PDF)

P.172 - Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S148-S148

2017

Volltextzugriff (PDF)

Prediction of cardiac outcomes in 600 adult patients with mitochondrial diseases

Archives of cardiovascular diseases supplements, 2023-01, Vol.15 (1), p.30

2023

Volltextzugriff (PDF)

Xanthomatose cérébro-tendineuse : deux cas avec imagerie par résonance magnétique

Revue neurologique, 1992, Vol.148 (8-9), p.541-545

1992

Volltextzugriff (PDF)

A case of esophageal-tracheal fistula

Maroc médical, 1958-07, Vol.37 (398), p.815

MASINGUE, M

1958

Volltextzugriff (PDF)

1 – 25 von 105

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(70)
Mit Volltextzugriff
(65)

Publikationsform

Artikel
(100)
Reviews
(5)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

Strategy for genetic analysis in hereditary neuropathy

Current clinical management of CIDP with immunoglobulins in France: An expert opinion

587P White matter lesions and genetic muscular diseases: an overview

LIMB GIRDLE MUSCULAR DYSTROPHIES: P.136 POMT2 homozygous mutation presenting as intellectual deficiency and isolated elevated CK in siblings

LIMB GIRDLE MUSCULAR DYSTROPHIES

Maladie de Whipple avec atteinte neurologique centrale multifocale et périphérique motrice pure

531P The French registry of glycogen storage disease type 3

Un train peut en cacher deux autres

VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa

EP.08Highly asymmetrical distribution of muscle wasting correlated with heteroplasmy level in a patient suffering from a mitochondrial myopathy with single deletion of mitochondrial DNA

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

P351 Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort

FSHD / OPMD / MYOTONIC DYSTROPHY: P.223 Specific biopsy findings: a key factor in the diagnosis of OPMD presenting with isolated dropping head syndrome

FSHD / OPMD / MYOTONIC DYSTROPHY

VP429 Impaired skeletal muscle strength in adult patients with laminopathies

Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy

70P Defining the landscape of TIA1 and SQSTM1 digenic myopathy

P.100Pseudo-increment at repetitive nerve stimulation (Arzel's sign): a new tool for Brody myopathy diagnosis

Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

P.172 - Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Prediction of cardiac outcomes in 600 adult patients with mitochondrial diseases

Xanthomatose cérébro-tendineuse : deux cas avec imagerie par résonance magnétique

A case of esophageal-tracheal fistula

Suchergebnisse filtern