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1

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

Cecilia Bjursell, Anna Erlandson, Margareta Nordling, Staffan Nilsson, Jan Wahlström, Helena Stibler, Bengt Kristiansson, Tommy Martinsson

Journal:

Year:

2000

Language:

english

File:

PDF, 216 KB

english, 2000

2

Carbohydrate-deficient glycoprotein syndrome type II

J. Jaeken, P. Cock, H. Stibler, C. Geet, J. Kint, V. Ramaekers, H. Carchon

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 73 KB

english, 1993

3

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

M. T. García Silva, J. de Castro, H. Stibler, R. Simón, A. Chasco Yrigoyen, F. Mateos, I. Ferrer, S. Madero, J. M. Velasco, F. Guttierrez-Larraya

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 222 KB

english, 1996

4

A new variant of the carbohydrate deficient glycoproteins syndrome

V. T. Ramaekers, H. Stibler, J. Kint, J. Jaeken

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 322 KB

english, 1991

5

Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy

Helena Stibler, Lars Edström, Karsten Ahlbeck, Sten Remahl, Tor Ansved

Journal:

Intensive Care Medicine

Year:

2003

Language:

english

File:

PDF, 768 KB

english, 2003

6

Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant

Irina Mader, Marion Döbler-Neumann, Wilhelm Küker, Helena Stibler, Ingeborg Krägeloh-Mann

Journal:

Child's Nervous System

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

7

Changes in diaphragm structure following prolonged mechanical ventilation in piglets

P. Radell, L. Edström, H. Stibler, L. I. Eriksson, T. Ansved

Journal:

Acta Anaesthesiologica Scandinavica

Year:

2004

Language:

english

File:

PDF, 1.03 MB

english, 2004

8

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

Bjursell, Cecilia, Wahlström, Jan, Berg, Kerstin, Stibler, Helena, Kristiansson, Bengt, Matthijs, Gert, Martinsson, Tommy

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 542 KB

english, 1999

9

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)

B. Kristiansson, H. Stibler, N. Conradi, B.O. Eriksson, W. Ryd

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 166 KB

english, 1998

10

The effects of ethanol exposure during the brain growth spurt in rats

Elizabeth M. Burns, Thomas W. Kruckeberg, Helena Stibler, Erik Cerven, Stefan Borg

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1984

Language:

english

File:

PDF, 687 KB

english, 1984

11

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

Erlandson, Anna, Bjursell, Cecilia, Stibler, Helena, Kristiansson, Bengt, Wahlström, Jan, Martinsson, Tommy

Journal:

Year:

2001

Language:

english

File:

PDF, 460 KB

english, 2001

12

Brain synaptosomal (Na+ and K+)ATPase activity as an index of tolerance to ethanol

Françoise Beaugé, Helena Stibler, Harold Kalant

Journal:

Pharmacology Biochemistry and Behavior

Year:

1983

Language:

english

File:

PDF, 554 KB

english, 1983

13

Quantitative estimation of abnormal microheterogeneity of serum transferrin in alcoholics

Helena Stibler, Olof Sydow, Stefan Borg

Journal:

Pharmacology Biochemistry and Behavior

Year:

1980

Language:

english

File:

PDF, 940 KB

english, 1980

14

Abnormal Microheterogeneity of Transferrin in Serum and Cerebrospinal Fluid in Alcoholism

H. Stibler, C. Allgulander, S. Borg, K. G. Kjellin

Journal:

Journal of Internal Medicine

Year:

1978

Language:

english

File:

PDF, 1.19 MB

english, 1978

15

Clinical Significance of Abnormal Heterogeneity of Transferrin in Relation to Alcohol Consumption

Helena Stibler, Stefan Borg, Christer Allgulander

Journal:

Journal of Internal Medicine

Year:

1979

Language:

english

File:

PDF, 580 KB

english, 1979

16

SYNAPTOSOMAL SIALIC ACID METABOLISM ON ETHANOL EXPOSURE DURING SYNAPTOGENESIS

H. Stibler, E. Burns, T. Kruckeberg, P. Gaetano, E. Cervén, S. Borg, B. Tabakoff

Journal:

Acta Neurologica Scandinavica

Year:

1982

Language:

english

File:

PDF, 128 KB

english, 1982

17

GLYCOCONJUGATE ABNORMALITIES IN ERYTHROCYTE MEMBRANES IN PATIENTS WITH SOME INHERITED MUSCULAR DISEASES

H. Stibler, O. Sydow

Journal:

Acta Neurologica Scandinavica

Year:

1984

Language:

english

File:

PDF, 115 KB

english, 1984

18

Abnormal erythrocyte survival in patients with myotonic dystrophy

Olof Sydow, Helena Stibler, Robert Hast

Journal:

Acta Neurologica Scandinavica

Year:

1985

Language:

english

File:

PDF, 198 KB

english, 1985

19

Sialyltransferase activity in erythrocyte membranes and serum in patients with myotonic dystrophy

H. Stibler, O. Sydow

Journal:

Acta Neurologica Scandinavica

Year:

1988

Language:

english

File:

PDF, 236 KB

english, 1988

20

Diagnosis of alcohol-related neurological diseases by analysis of carbohydrate-deficient transferrin in serum

Journal:

Acta Neurologica Scandinavica

Year:

1993

Language:

english

File:

PDF, 427 KB

english, 1993

21

Transferrin Microheterogeneity in Rats Treated Chronically with Ethanol

Helena Stibler, Françoise Beaugé, Anders Bjørneboe, Gilles Aufrère

Journal:

Basic & Clinical Pharmacology & Toxicology

Year:

1989

Language:

english

File:

PDF, 328 KB

english, 1989

22

Carbohydrate-deficient transferrin in galactosaemia

H. Stibler, U. von Döbeln, B. Kristiansson, C. Guthenberg

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 219 KB

english, 1997

23

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A

S Kjaergaard, B Kristiansson, H Stibler, HH Freeze, M Schwartz, T Martinsson, F Skovby

Journal:

Acta Paediatrica

Year:

1998

Language:

english

File:

PDF, 109 KB

english, 1998

24

Serum transferrin in patients with retinitis pigmentosa

Sten Andréasson, Helena Stibler, Berndt Ehinger

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1992

Language:

english

File:

PDF, 244 KB

english, 1992

25

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

Cecilia Bjursell, Helena Stibler, Jan Wahlström, Bengt Kristiansson, Flemming Skovby, Petter Strömme, Gösta Blennow, Tommy Martinsson

Journal:

Year:

1997

Language:

english

File:

PDF, 148 KB

english, 1997

26

Levels of 5-hydroxytryptophol in cerebrospinal fluid from alcoholics determined by gas chromatography-mass spectrometry

Olof Beck, Stefan Borg, Bo Holmstedt, Helena Stibler

Journal:

Biochemical Pharmacology

Year:

1980

Language:

english

File:

PDF, 502 KB

english, 1980

27

Alcohol abuse increases the lipid structural order in human erythrocyte membranes: A steady-state and time-resolved anisotropy study

Françoise Beaug, Jacques Gallay, Helena Stibler, Stefan Borg

Journal:

Biochemical Pharmacology

Year:

1988

Language:

english

File:

PDF, 737 KB

english, 1988

28

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

Minna B. Petersen, Karin Brostrøm, Helena Stibler, Flemming Skovby

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 567 KB

english, 1993

29

Levels of transforming growth factor alpha (TGF-a)in human cerebrospinal fluid

G.-B.Van Setten, Lars Edström, Helena Stibler, Susan Rasmussen, Gregory Schultz

Journal:

International Journal of Developmental Neuroscience

Year:

1999

Language:

english

File:

PDF, 173 KB

english, 1999

30

P.P.5 10 A sarcoplasmic body myopathy

B. Hedberg, H. Stibler, F. Xiang, G. Åhlberg, M. Engvall, T. Ansved, L. Edström

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

31

Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia

K.G. Kjellin, H. Stibler

Journal:

Journal of the Neurological Sciences

Year:

1975

Language:

english

File:

PDF, 1.17 MB

english, 1975

32

Isoelectric focusing and electrophoresis of the CSF proteins in tremor of different origins: A study of 38 cases with the cerebellar syndrome of chronic alcoholism, Parkinson's disease and essential tremor

H. Stibler, K.G. Kjellin

Journal:

Journal of the Neurological Sciences

Year:

1976

Language:

english

File:

PDF, 1.38 MB

english, 1976

33

Isoelectric focusing and electrophoresis of cerebro-spinal fluid proteins in muscular dystrophies and spinal muscular atrophies

K.G. Kjellin, H. Stibler

Journal:

Journal of the Neurological Sciences

Year:

1976

Language:

english

File:

PDF, 1.04 MB

english, 1976

34

Crossed immunoelectrofocusing for identification of normal and abnormal cerebrospinal fluid proteins: A preliminary report

Journal:

Journal of the Neurological Sciences

Year:

1977

Language:

english

File:

PDF, 788 KB

english, 1977

35

The normal cerebrospinal fluid proteins identified by means of thin-layer isoelectric focusing and crossed immunoelectrofocusing

Journal:

Journal of the Neurological Sciences

Year:

1978

Language:

english

File:

PDF, 1.89 MB

english, 1978

36

Direct immunofixation after isoelectric focusing: An improved method for identification of cerebrospinal fluid and serum proteins

Journal:

Journal of the Neurological Sciences

Year:

1979

Language:

english

File:

PDF, 735 KB

english, 1979

37

Serum protein binding of lead in vitro in amyotrophic lateral sclerosis patients and controls

Sebastian Conradi, Lars-Olof Ronnevi, Helena Stibler

Journal:

Journal of the Neurological Sciences

Year:

1978

Language:

english

File:

PDF, 622 KB

english, 1978

38

Effect of ethanol on synaptosomal sialic acid metabolism in the developing rat brain

Helena Stibler, Elizabeth Burns, Tomas Kruckeberg, Paul Gaetano, Erik Cervén, Stefan Borg, Boris Tabakoff

Journal:

Journal of the Neurological Sciences

Year:

1983

Language:

english

File:

PDF, 1.50 MB

english, 1983

39

The sialic acid and galactose concentrations in erythrocyte membranes in patients with myotonic dystrophy, limb-girdle and facioscapulohumeral dystrophy

Helena Stibler, Olof Sydow

Journal:

Journal of the Neurological Sciences

Year:

1983

Language:

english

File:

PDF, 668 KB

english, 1983

40

Carbohydrate composition of erythrocyte membranes and glycosidase activities in serum in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia

Helena Stibler, Olof Sydow

Journal:

Journal of the Neurological Sciences

Year:

1984

Language:

english

File:

PDF, 734 KB

english, 1984

41

The physical state of the erythrocyte membrane in myotonic dystrophy

Françoise Beaugé, Jacques Gallay, Olof Sydow, Helena Stibler

Journal:

Journal of the Neurological Sciences

Year:

1989

Language:

english

File:

PDF, 623 KB

english, 1989

42

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally

Helena Stibler, Flemming Skovby

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 107 KB

english, 1994

43

Detection of Relapses in Alcohol-Dependent Patients: Comparison of Carbohydrate-Deficient Transferrin in Serum, 5-Hydroxytryptophol in Urine, and Self-Reports

A. Voltaire Carlsson, A. J. Hiltunen, O. Beck, H. Stibler, S. Borg

Journal:

Alcoholism: Clinical and Experimental Research

Year:

1993

Language:

english

File:

PDF, 645 KB

english, 1993

44

Micro Anion Exchange Chromatography of Carbohydrate-Deficient Transferrin in Serum in Relation to Alcohol Consumption (Swedish Patent8400587?5)

Stibler, Helena, Borg, Stefan, Joustra, Marius

Journal:

Alcoholism: Clinical and Experimental Research

Year:

1986

Language:

english

File:

PDF, 1.22 MB

english, 1986

45

Sialidase and β-galactosidase activities in serum of alcoholic patients

Stibler, Helena, Borg, Stefan, Beaugé, Françoise

Journal:

Drug and Alcohol Dependence

Year:

1984

Language:

english

File:

PDF, 269 KB

english, 1984

46

Carbohydrate-deficient transferrin (CDT) in serum in women with early alcohol addiction

Stibler, Helena, Dahlgren, Lena, Borg, Stefan

Journal:

Year:

1988

Language:

english

File:

PDF, 553 KB

english, 1988

47

AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINS

Jaeken, J., Eggermont, E., Stibler, H.

Journal:

Year:

1987

Language:

english

File:

PDF, 166 KB

english, 1987

48

Quantitation of a qualitative change of transferrin heterogeneity in alcoholics

Stibler, Helena, Sydow, Olof, Borg, Stefan

Journal:

Drug and Alcohol Dependence

Year:

1980

Language:

english

File:

PDF, 161 KB

english, 1980

49

Neonatal ethanol exposure: some CNS effects

Burns, Elizabeth M., Kruckeberg, Thomas W., Kanak, Mary F., Stibler, Helena

Journal:

International Journal of Developmental Neuroscience

Year:

1985

Language:

english

File:

PDF, 64 KB

english, 1985

50

Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders

Hagberg, Bengt A., Blennow, Gösta, Kristiansson, Bengt, Stibler, Helena

Journal:

Pediatric Neurology

Year:

1993

Language:

english

File:

PDF, 967 KB

english, 1993