UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 169

Sortiert nach

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

Journal of neurology, neurosurgery and psychiatry, 2009-10, Vol.80 (10), p.1125-1129

2009

Volltextzugriff (PDF)

Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S176-S176

2016

Volltextzugriff (PDF)

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

Cephalalgia, 2008-08, Vol.28 (8), p.887-891

2008

Volltextzugriff (PDF)

P.13.10 Unexpected findings in array analysis with possible implications for dystrophinopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.812-812

2013

Volltextzugriff (PDF)

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

Human molecular genetics, 2001-07, Vol.10 (15), p.1547-1547

2001

Volltextzugriff (PDF)

P1.42 Inter- and intra muscle fat fraction variability in DMD patients

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.654-654

2011

Volltextzugriff (PDF)

P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S13-S13

2014

Volltextzugriff (PDF)

G.P.14.02 MLPA analysis of the CAPN3 gene detects large deletions in LGMD2A patients

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.816-816

2008

Volltextzugriff (PDF)

The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit

The Journal of immunology (1950), 1987-11, Vol.139 (9), p.3132

1987

Volltextzugriff (PDF)

G.P.8.13 Cardiomyopathy in sarcoglycanopathies

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.814-814

2007

Volltextzugriff (PDF)

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

Journal of medical genetics, 1997-10, Vol.34 (10), p.805-812

1997

Volltextzugriff (PDF)

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.793-796

2000

Volltextzugriff (PDF)

G.P.10.13 Genotype-phenotype correlations for the skeletal muscle chloride- and sodium-channelopathies

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.821-822

2007

Volltextzugriff (PDF)

P.296 - Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S176-S176

2016

Volltextzugriff (PDF)

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

Cell, 1990-12, Vol.63 (6), p.1239-1248

1990

Volltextzugriff (PDF)

Monoclonal antibodies for dystrophin analysis : epitope mapping and improved binding to SDS-treated muscle sections

Biochemical journal, 1992-12, Vol.288 (2), p.663-668

1992

Volltextzugriff (PDF)

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

Journal of medical genetics, 1996-11, Vol.33 (11), p.935-939

1996

Volltextzugriff (PDF)

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

Journal of medical genetics, 1993-09, Vol.30 (9), p.745-751

1993

Volltextzugriff (PDF)

Different localization of dystrophin in developing and adult human skeletal muscle

Muscle & nerve, 1991-01, Vol.14 (1), p.1-7

1991

Volltextzugriff (PDF)

Specificity of dystrophin analysis improved with monoclonal antibodies

The Lancet (British edition), 1990-10, Vol.336 (8719), p.881-882

1990

Volltextzugriff (PDF)

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups

Journal of medical genetics, 1993-09, Vol.30 (9), p.728-736

1993

Volltextzugriff (PDF)

Dystrophin expression in Duchenne patients with "in-frame" gene deletions

Neuropediatrics, 1993-04, Vol.24 (2), p.93

1993

Volltextzugriff (PDF)

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame

Journal of medical genetics, 1992-12, Vol.29 (12), p.892-896

1992

Volltextzugriff (PDF)

Fetal dystrophin to diagnose carrier status

The Lancet (British edition), 1991-07, Vol.338 (8761), p.258-259

1991

Volltextzugriff (PDF)

Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin

FEBS letters, 1990-10, Vol.272 (1), p.109-112

1990

Volltextzugriff (PDF)

1 – 25 von 169

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(153)
Mit Volltextzugriff
(141)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Humans
(93)
Life Sciences & Biomedicine
(83)
Science & Technology
(83)
Neurology
(69)
Male
(55)
Female
(54)
Biological And Medical Sciences
(45)
Neurosciences & Neurology
(45)
Clinical Neurology
(44)
Medical Sciences
(42)
Mutation
(39)
Dystrophin - Genetics
(35)
Adult
(34)
Middle Aged
(29)
Child
(27)
Muscular Dystrophies - Genetics
(27)
Diseases Of Striated Muscles. Neuromuscular Diseases
(25)
Neurosciences
(25)
Adolescent
(24)
Genetics & Heredity
(23)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

P.13.10 Unexpected findings in array analysis with possible implications for dystrophinopathy

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

P1.42 Inter- and intra muscle fat fraction variability in DMD patients

P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

G.P.14.02 MLPA analysis of the CAPN3 gene detects large deletions in LGMD2A patients

The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit

G.P.8.13 Cardiomyopathy in sarcoglycanopathies

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

G.P.10.13 Genotype-phenotype correlations for the skeletal muscle chloride- and sodium-channelopathies

P.296 - Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

Monoclonal antibodies for dystrophin analysis : epitope mapping and improved binding to SDS-treated muscle sections

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

Different localization of dystrophin in developing and adult human skeletal muscle

Specificity of dystrophin analysis improved with monoclonal antibodies

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups

Dystrophin expression in Duchenne patients with "in-frame" gene deletions

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame

Fetal dystrophin to diagnose carrier status

Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin

Suchergebnisse filtern