UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 6.924

Sortiert nach

Anti-MuSK autoantibodies block binding of collagen Q to MuSK

Neurology, 2011-11, Vol.77 (20), p.1819

2011

Volltextzugriff (PDF)

Myasthenic syndrome caused by plectinopathy

Neurology, 2011-01, Vol.76 (4), p.327

2011

Volltextzugriff (PDF)

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

Neurology, 2009-07, Vol.73 (3), p.228

2009

Volltextzugriff (PDF)

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Lancet neurology, 2015-05, Vol.14 (5), p.461-461

2015

Volltextzugriff (PDF)

Primates and primatologists: social contexts for interspecies pathogen transmission

American journal of primatology, 2012-06, Vol.74 (6), p.543-550

2012

Volltextzugriff (PDF)

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

Brain (London, England : 1878), 2004-02, Vol.127 (2), p.439-451

2004

Volltextzugriff (PDF)

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

Neurology, 2002-02, Vol.58 (4), p.603

2002

Volltextzugriff (PDF)

Myofibrillar myopathy

Annals of neurology, 1999-11, Vol.46 (5), p.681-683

Engel, Andrew G.

1999

Volltextzugriff (PDF)

Novel congenital myasthenic syndromes associated with defects in quantal release

Neurology, 2006-04, Vol.66 (8), p.1223

2006

Volltextzugriff (PDF)

Muscle Coenzyme Q Deficiency in Familial Mitochondrial Encephalomyopathy

Proceedings of the National Academy of Sciences - PNAS, 1989-04, Vol.86 (7), p.2379-2382

1989

Volltextzugriff (PDF)

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

Annals of neurology, 1998-04, Vol.43 (4), p.480-484

1998

Volltextzugriff (PDF)

Acute quadriplegic myopathy: Analysis of myosin isoforms and evidence for calpain-mediated proteolysis

Muscle & nerve, 1997-03, Vol.20 (3), p.316-322

1997

Volltextzugriff (PDF)

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

Human molecular genetics, 1994-12, Vol.3 (12), p.2231-2236

1994

Volltextzugriff (PDF)

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

Journal of neurology, 2013-11, Vol.260 (11), p.2894-2896

2013

Volltextzugriff (PDF)

Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency

Journal of neuropathology and experimental neurology, 1999-08, Vol.58 (8), p.832-846

1999

Volltextzugriff (PDF)

Current understanding of congenital myasthenic syndromes

Current opinion in pharmacology, 2005-06, Vol.5 (3), p.308-321

2005

Volltextzugriff (PDF)

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

Journal of medical genetics, 2004-01, Vol.41 (1), p.e8-8

2004

Volltextzugriff (PDF)

New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome

Human molecular genetics, 1996-09, Vol.5 (9), p.1217-1227

1996

Volltextzugriff (PDF)

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Human molecular genetics, 2008-12, Vol.17 (24), p.4022-4035

2008

Volltextzugriff (PDF)

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

Neuromuscular disorders : NMD, 2002-08, Vol.12 (6), p.548-553

2002

Volltextzugriff (PDF)

Congenital Myasthenic Syndrome Caused by Prolonged Acetylcholine Receptor Channel Openings Due to a Mutation in the M2 Domain of the ε Subunit

Proceedings of the National Academy of Sciences - PNAS, 1995-01, Vol.92 (3), p.758-762

1995

Volltextzugriff (PDF)

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene

Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.131-135

1999

Volltextzugriff (PDF)

Inclusion body myositis: observations in 40 patients

Brain (London, England : 1878), 1989-06, Vol.112 (3), p.727-747

1989

Volltextzugriff (PDF)

Myasthenia gravis: quantitative immunocytochemical analysis of inflammatory cells and detection of complement membrane attack complex at the end-plate in 30 patients

Neurology, 1993-06, Vol.43 (6), p.1167

1993

Volltextzugriff (PDF)

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

Neurology, 2002-12, Vol.59 (12), p.1881

2002

Volltextzugriff (PDF)

1 – 25 von 6.924

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(5.437)
Mit Volltextzugriff
(5.929)

Publikationsform

5 weitere anzeigen...

Weniger anzeigen...

Sprache

9 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(3.932)
Life Sciences & Biomedicine
(2.575)
Humans
(2.062)
Female
(1.128)
Male
(1.035)
Physical Sciences
(931)
Biological And Medical Sciences
(858)
Adult
(746)
Technology
(742)
Animals
(738)
Middle Aged
(603)
Medical Sciences
(596)
Physics
(584)
Computer Science
(474)
Aged
(410)
Neurosciences & Neurology
(393)
Computer Science, Theory & Methods
(328)
Biochemistry & Molecular Biology
(316)
Social Sciences
(312)
Adolescent
(302)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Anti-MuSK autoantibodies block binding of collagen Q to MuSK

Myasthenic syndrome caused by plectinopathy

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Primates and primatologists: social contexts for interspecies pathogen transmission

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

Myofibrillar myopathy

Novel congenital myasthenic syndromes associated with defects in quantal release

Muscle Coenzyme Q Deficiency in Familial Mitochondrial Encephalomyopathy

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

Acute quadriplegic myopathy: Analysis of myosin isoforms and evidence for calpain-mediated proteolysis

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency

Current understanding of congenital myasthenic syndromes

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

Congenital Myasthenic Syndrome Caused by Prolonged Acetylcholine Receptor Channel Openings Due to a Mutation in the M2 Domain of the ε Subunit

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene

Inclusion body myositis: observations in 40 patients

Myasthenia gravis: quantitative immunocytochemical analysis of inflammatory cells and detection of complement membrane attack complex at the end-plate in 30 patients

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

Suchergebnisse filtern