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Clinical presentation and course of childhood Guillain-Barré syndrome: a prospective multicentre study

Neuropediatrics, 2007-02, Vol.38 (1), p.10-17

2007

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Chronic inflammatory demyelinating polyradiculoneuropathy in children and their response to treatment

Neuropediatrics, 1999-08, Vol.30 (4), p.190-196

Korinthenberg, R

1999

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Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma

Neuropediatrics, 2007-04, Vol.38 (2), p.61-63

2007

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Obesity after childhood craniopharyngioma - German multicenter study on pre-operative risk factors and quality of life

Klinische Pädiatrie, 2001-07, Vol.213 (4), p.244-249

2001

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Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

Neurology, 2003-03, Vol.60 (6), p.983-987

2003

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Assessing quality of life in long-term survivors after ¹²⁵I brachytherapy for low-grade glioma in childhood

Neuropediatrics, 2011-06, Vol.42 (3), p.110-115

2011

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Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

Clinical chemistry (Baltimore, Md.), 2001-03, Vol.47 (3), p.451-458

2001

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Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of l -dopa

Neurology, 2000-12, Vol.55 (11), p.1735-1738

2000

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Natural history and treatment effects in Guillain-Barré syndrome: a multicentre study

Archives of disease in childhood, 1996-04, Vol.74 (4), p.281-287

1996

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The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms

Circulation (New York, N.Y.), 2012-04, Vol.125 (13), p.1626-1634

2012

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Recruitment of the sensorimotor cortex--a developmental FMRI study

Neuropediatrics, 2005-12, Vol.36 (6), p.373

2005

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High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

Annals of neurology, 1998-05, Vol.43 (5), p.634-639

1998

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Low level of intracortical inhibition in children shown by transcranial magnetic stimulation

Neuropediatrics, 2004-04, Vol.35 (2), p.120-125

2004

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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

American journal of human genetics, 2007-07, Vol.81 (1), p.158-164

2007

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial

Pediatrics (Evanston), 2005-07, Vol.116 (1), p.8-14

2005

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Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene

Journal of the American Society of Nephrology, 2002, Vol.13 (1), p.75-79

2002

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Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology

Brain (London, England : 1878), 2004-11, Vol.127 (11), p.2406-2418

2004

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Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

Annals of neurology, 1997-09, Vol.42 (3), p.364-368

1997

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Journal of medical genetics, 2011-02, Vol.48 (2), p.105-116

2011

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Nature genetics, 2000-11, Vol.26 (3), p.370-374

2000

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Polyradiculoneuritis with myelitis: a rare differential diagnosis of Guillain-Barré syndrome

Neuropediatrics, 2002-04, Vol.33 (2), p.93-96

2002

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Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities

Epilepsia (Copenhagen), 1994-09, Vol.35 (5), p.1005-1015

1994

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Hashimoto encephalopathy - is it underdiagnosed in pediatric patients?

Neuropediatrics, 2002-04, Vol.33 (2), p.86-89

2002

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Clinical presentation and course of childhood Guillain-Barré syndrome: a prospective multicentre study

Chronic inflammatory demyelinating polyradiculoneuropathy in children and their response to treatment

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma

Obesity after childhood craniopharyngioma - German multicenter study on pre-operative risk factors and quality of life

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

Assessing quality of life in long-term survivors after ¹²⁵I brachytherapy for low-grade glioma in childhood

Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of l -dopa

Natural history and treatment effects in Guillain-Barré syndrome: a multicentre study

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms

Recruitment of the sensorimotor cortex--a developmental FMRI study

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

Low level of intracortical inhibition in children shown by transcranial magnetic stimulation

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene

Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Polyradiculoneuritis with myelitis: a rare differential diagnosis of Guillain-Barré syndrome

Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities

Hashimoto encephalopathy - is it underdiagnosed in pediatric patients?

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