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Continuous intrathecal baclofen therapy in children with cerebral palsy - when does improvement emerge?

Acta Paediatrica, 2010-11, Vol.99 (11), p.1661-1665

2010

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Nature genetics, 1997-10, Vol.17 (2), p.190-193

1997

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Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood

European journal of paediatric neurology, 2015-07, Vol.19 (4), p.411-414

2015

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Automated Spectral EEG Analyses of Premature Infants during the First Three Days of Life Correlated with Developmental Outcomes at 24 Months

Neonatology (Basel, Switzerland), 2013-01, Vol.103 (3), p.205-212

2013

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Phenotype of adult Refsum disease due to a defect in peroxin 7

Neurology, 2007-02, Vol.68 (9), p.698-700

2007

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Therapy in a subtropical climate for children with cerebral palsy. Evidence of physical and psychosocial effects?

Acta Paediatrica, 2009-04, Vol.98 (4), p.670-674

2009

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Y chromosome haplogroups in autistic subjects

Molecular psychiatry, 2002-01, Vol.7 (2), p.217-219

2002

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Human phytanoyl-CoA hydroxylase : resolution of the gene structure and the molecular basis of Refsum's disease

Human molecular genetics, 2000-05, Vol.9 (8), p.1195-1200

2000

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Rett variants: A suggested model for inclusion criteria

Pediatric Neurology, 1994-07, Vol.11 (1), p.5-11

1994

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Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Movement disorders, 1994, Vol.9 (1), p.22-30

1994

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Refsum Disease, Peroxisomes and Phytanic Acid Oxidation: A Review

Journal of neuropathology and experimental neurology, 2001-11, Vol.60 (11), p.1021-1031

2001

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A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60

Biochemical and biophysical research communications, 1993-05, Vol.193 (1), p.146-154

1993

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Childhood autism: the need for physical investigations

Brain & development (Tokyo. 1979), 1998-06, Vol.20 (4), p.227-233

1998

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Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Journal of medical genetics, 1997-10, Vol.34 (10), p.849-851

1997

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Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant

Neuropediatrics, 1995-04, Vol.26 (2), p.87-87

1995

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Rett syndrome: geographic variation in prevalence in Norway

Brain & development (Tokyo. 1979), 1997-06, Vol.19 (4), p.258-261

1997

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Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl‐CoA hydroxylase cDNA

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.288-291

1998

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Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

Pediatric neurology, 1997-02, Vol.16 (2), p.160-162

1997

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Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I

American journal of neuroradiology : AJNR, 1991-05, Vol.12 (3), p.407-409

1991

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Y chromosome haplogroups in autistic subjects

Molecular psychiatry, 2002-02, Vol.7 (2), p.217

2002

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Nature genetics, 2003-05, Vol.34 (1), p.27-29

2003

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Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease

Journal of child neurology, 2000-07, Vol.15 (7), p.473-477

2000

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VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT SYNDROME

Developmental medicine and child neurology, 1996-03, Vol.38 (3), p.212-225

1996

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Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

Journal of the neurological sciences, 1987, Vol.77 (1), p.87-96

1987

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Predictive Value of Early Long-Term Monitoring of Total Absolute Band Power (TABP) in Premature Infants Correlated to Neurologic Outcome at 24 Months of Age

Pediatric research, 2011-11, Vol.70 (Suppl 5), p.209-209

2011

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Continuous intrathecal baclofen therapy in children with cerebral palsy - when does improvement emerge?

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood

Automated Spectral EEG Analyses of Premature Infants during the First Three Days of Life Correlated with Developmental Outcomes at 24 Months

Phenotype of adult Refsum disease due to a defect in peroxin 7

Therapy in a subtropical climate for children with cerebral palsy. Evidence of physical and psychosocial effects?

Y chromosome haplogroups in autistic subjects

Human phytanoyl-CoA hydroxylase : resolution of the gene structure and the molecular basis of Refsum's disease

Rett variants: A suggested model for inclusion criteria

Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Refsum Disease, Peroxisomes and Phytanic Acid Oxidation: A Review

A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60

Childhood autism: the need for physical investigations

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant

Rett syndrome: geographic variation in prevalence in Norway

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl‐CoA hydroxylase cDNA

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I

Y chromosome haplogroups in autistic subjects

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease

VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT SYNDROME

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

Predictive Value of Early Long-Term Monitoring of Total Absolute Band Power (TABP) in Premature Infants Correlated to Neurologic Outcome at 24 Months of Age

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