Lista de obras - Rudolf Korinthenberg - Dominio Público Uruguay

18FDG-PET in epilepsies of infantile onset with pharmacoresistant generalised tonic-clonic seizures

artículo científico publicado en 2004

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis

artículo científico publicado en 2015

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

artículo científico publicado en 2004

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

artículo científico publicado en 2014

A new era in the management of Duchenne muscular dystrophy

artículo científico publicado en 2018

A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum

scientific article published on 01 January 1996

Absence of transcallosal inhibition following focal magnetic stimulation in preschool children

artículo científico publicado en 1998

Absence of transcallosal inhibition in adolescents with diplegic cerebral palsy

artículo científico publicado en 1999

Acute polyradiculoneuritis: Guillain-Barré syndrome

artículo científico publicado en 2013

Adductor spasticity in children with cerebral palsy and treatment with botulinum toxin type A: the parents' view of functional outcome

scholarly article by Florian Heinen et al published November 1999 in European Journal of Neurology

Aicardi-Goutières-Syndrom

Anti-GT1a IgG Antibodies in a Child With Severe Guillain-Barré Syndrome

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

artículo científico publicado en 2011

Aszites und Abmagerung bei intrakranieller Raumforderung

Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase

artículo científico publicado en 1988

Benigne Partialepilepsie des Kleinkindesalters (Watanabe)

Botulinum toxin A in children with cerebral palsy: evaluation of therapy using the Pediatric Evaluation of Disability Inventory (PEDI)

scholarly article by Janbernd Kirschner et al published 29 July 2015 in Journal of Pediatric Neurology

Botulinum-Toxin A

CNS late effects after ALL therapy in childhood. Part II: Conventional EEG recordings in asymptomatic long-term survivors of childhood ALL- An evaluation of the interferences between neurophysiology, neurology, psychology, and CNS morphology

article

CNS lipoma in patients with epidermal nevus syndrome

artículo científico publicado en 2000

Central nervous system prophylaxis with high-dose methotrexate does not give rise to significant electroencephalographic changes in children with acute lymphoblastic leukemia

artículo científico publicado en 2002

Cerebral regional hypometabolism caused by propofol-induced sedation in children with severe myoclonic epilepsy: a study using fluorodeoxyglucose positron emission tomography and statistical parametric mapping

artículo científico publicado en 2002

Chronic myelopathy after combined chemo-radiotherapy in a patient with relapsed mediastinal B-cell lymphoma

Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients

artículo científico publicado en 2006

Clinical impact of antibody formation to botulinum toxin A in children

artículo científico publicado en 2004

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

artículo científico publicado en 2010

Compound Heterozygosity of the Protein S-Gene as a Cause of Severe Cerebral Sinovenous Thrombosis in a 7-Year-Old Child

article

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

artículo científico publicado en 1997

Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families

artículo científico publicado en 1984

Cystic Encephalomalacia following Vasculopathy and Vasospasm of Proximal Intracranial Arteries Due to Pneumococcal Meningitis in a Infant

artículo científico publicado en 2018

D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome

artículo científico publicado en 2014

Development of the corticospinal system and hand motor function: central conduction times and motor performance tests

artículo científico publicado en 2000

Die Therapie spastischer Bewegungsstörungen im Kindesalter mit Botulinumtoxin A

Differential Analysis of Bone Density in Children and Adolescents with Neuromuscular Disorders and Cerebral Palsy

artículo científico publicado en 2015

Differentiation of specific ripple patterns helps to identify epileptogenic areas for surgical procedures

artículo científico publicado en 2013

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

artículo científico publicado en 2017

Echocardiographic and Electrocardiographic Findings of Cardiomyopathy in Duchenne and Becker?Kiener Muscular Dystrophies

Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial

artículo científico publicado en 2018

Efficacy of lamotrigine and vigabatrin in drug-resistant epilepsies of childhood

article

Electrical stimulation for cortical mapping reduces the density of high frequency oscillations

artículo científico publicado en 2014

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden?

Epilepsien mit prim�r generalisierten tonisch-klonischen Anf�llen bei Jugendlichen und Erwachsenen

Epilepsy in Aicardi-Goutières syndrome

artículo científico publicado en 2013

Epilepsy surgery for glioneuronal tumors in childhood: avoid loss of time

artículo científico publicado en 2014

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

article

Fast corticospinal system and motor performance in children: conduction proceeds skill

artículo científico publicado en 1998

Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

artículo científico publicado en 2010

Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes

artículo científico publicado en 2009

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

scientific article published on 19 August 2004

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma

artículo científico publicado en 2007

Guillain–Barré syndrome and Fisher syndrome: Case definitions and guidelines for collection, analysis, and presentation of immunization safety data

artículo científico publicado en 2011

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

artículo científico publicado en 2014

Handlungsempfehlung nach der Leitlinie „Guillain-Barré Syndrom im Kindes- und Jugendalter“

article

High frequency oscillations mirror disease activity in patients with focal cortical dysplasia

artículo científico publicado en 2013

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

artículo científico publicado en 1998

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

artículo científico publicado en 2013

Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease

artículo científico publicado en 2003

Incidence of vasculopathy in children with hypothalamic/chiasmatic gliomas treated with brachytherapy

artículo científico publicado en 2011

Increased urinary excretion of tubular enzymes and proteins in children with epilepsy

Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study

artículo científico publicado en 2006

Inhibitory conditioning stimulus in transcranial magnetic stimulation reduces the number of excited spinal motor neurons.

artículo científico publicado en 2001

Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome

artículo científico publicado en 1998

Intravenously Administered Immunoglobulin in the Treatment of Childhood Guillain-Barre Syndrome: A Randomized Trial

scientific article published on 01 July 2005

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

artículo científico publicado en 2015

Lack of response to botulinum toxin A in patients with hypertrophic pyloric stenosis

article

Long-term results of brachytherapy with temporary iodine-125 seeds in children with low-grade gliomas

artículo científico publicado en 2010

MR findings in pontocerebellar hypoplasia ⬇️

artículo científico publicado el 1 de julio de 1998

Measuring muscle strength in clinical trials – Authors' reply

article

Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

artículo científico publicado en 2015

Musculoskeletal pain: a new algorithm for differential diagnosis of a cardinal symptom in pediatrics

artículo científico

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

artículo científico publicado en 2006

Neurologic, neuropsychologic, and electroencephalographic findings after European tick-borne encephalitis in children

artículo científico publicado en 2005

Neurophysiological findings in long-term survivors of acute lymphoblastic leukaemia in childhood treated with the BFM protocol 81 SR-A/B.

artículo científico publicado en 1997

Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature.

artículo científico publicado en 2001

Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome

artículo científico publicado en 2000

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

article

Oligoclonal bands predict multiple sclerosis in children with optic neuritis

artículo científico publicado en 2015

On the origin of EEG-slowing and encephalopathy during induction treatment of acute lymphoblastic leukemia

artículo científico publicado en 2002

Parenchymale Hirnblutungen bei reifen Neugeborenen nach unauffälligem Spontanpartus

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

artículo científico publicado en 2007

Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy

article published in 2009

Pharmacology, efficacy, and tolerability of potassium bromide in childhood epilepsy

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

Post-traumatic syndrome after minor head injury cannot be predicted by neurological investigations

artículo científico publicado en 2004

Posterior cortex epilepsy surgery in childhood and adolescence: Predictors of long-term seizure outcome

artículo científico publicado en 2017

Primary intracranial soft tissue sarcoma in children and adolescents: a cooperative analysis of the European CWS and HIT study groups

artículo científico

Primary rhabdomyosarcoma of the leptomeninx. Clinical, neuroradiological and pathological aspects

artículo científico publicado en 1984

Pro- and anticoagulatory factors under sodium valproate-therapy in children.

artículo científico publicado en 2002

Probable Opitz trigonocephaly C syndrome with medulloblastoma

Promotion of family-friendliness at the Medical Faculty of Freiburg - taking stock of study participation ⬇️

artículo científico publicado el 23 de abril de 2012

Prospective neurophysiological study in children treated for acute lymphoblastic leukaemia: serial EEG during treatment and long-term follow up with evoked potentials

artículo científico publicado en 1990

Prospective study on anti-ganglioside antibodies in childhood Guillain-Barré syndrome

artículo científico publicado en 2006

Radiation-related disturbance of blood/brain barrier during therapy of acute lymphoblastic leukaemia

artículo científico publicado en 1983

Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient

artículo científico publicado en 1997

Recruitment of the sensorimotor cortex--a developmental FMRI study

artículo científico publicado en 2005

Recurrent attacks of fear and visual hallucinations in a child

artículo científico publicado en 2002

Renal tubular dysfunction following treatment with anti-epileptic drugs

article

Reoperation for refractory epilepsy in childhood: a second chance for selected patients

artículo científico publicado en 2013

Response to Letter to the Editor

Secondary non-response due to development of neutralising antibodies to botulinum toxin A during treatment of children with cerebral palsy

artículo científico publicado en 2000

Seizure and cognitive outcomes of epilepsy surgery in infancy and early childhood

artículo científico publicado en 2013

Seizure control and developmental trajectories after hemispherotomy for refractory epilepsy in childhood and adolescence

artículo científico publicado en 2013

Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

artículo científico publicado en 2002

Severe Locked-In-Like Guillain-Barré's Syndrome: Dilemmas in Diagnosis and Treatment

artículo científico publicado en 2020

Severe hepatotoxicity during valproate therapy: an update and report of eight new fatalities.

artículo científico publicado en 1994

Severe obstructive sleep apnea alleviated by oral appliance in a three-year-old boy.

artículo científico publicado en 2007

Simultaneous electroencephalography and functional magnetic resonance imaging

Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes.

artículo científico publicado en 1992

Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study

artículo científico publicado en 2013

Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study

artículo científico publicado en 2013

The Brighton Collaboration case definition: Comparison in a retrospective and prospective cohort of children with Guillain-Barré syndrome

artículo científico publicado en 2020

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

artículo científico publicado en 2015

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

artículo científico publicado en 2013

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

scientific journal article

Therapeutische Möglichkeiten bei neuromuskulären Erkrankungen

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

artículo científico publicado en 2020

Topiramate in children with west syndrome: a retrospective multicenter evaluation of 100 patients

artículo científico publicado en 2007

Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

artículo científico publicado en 2010

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics

artículo científico publicado en 2016

Treatment of adductor spasticity with BTX-A in children with CP: a randomized, double-blind, placebo-controlled study

article

Treatment of cerebral palsy with botulinum toxin A: functional benefit and reduction of disability. Three case reports

artículo científico publicado en 1997

Treatment of neuropathic bladder using botulinum toxin A in a 1-year-old child with myelomeningocele

article

Unilateral venous thalamic infarction in a child mimicking a thalamic tumor

artículo científico publicado en 2009

Validation of the Gross Motor Function Measure for Use in Children and Adolescents With Traumatic Brain Injuries

Ventriculomegaly diagnosed by prenatal ultrasound and mental development of the children

artículo científico publicado en 1998

Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation

artículo científico publicado en 2017

Why do children with cerebral palsy discontinue therapy with botulinum toxin A?

scholarly article by Michaela Linder-Lucht et al published 16 March 2006 in Developmental Medicine and Child Neurology

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

artículo científico publicado en 2005

Lista de obras de Rudolf Korinthenberg

18FDG-PET in epilepsies of infantile onset with pharmacoresistant generalised tonic-clonic seizures

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

A new era in the management of Duchenne muscular dystrophy

A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum

A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum

Absence of transcallosal inhibition following focal magnetic stimulation in preschool children

Absence of transcallosal inhibition in adolescents with diplegic cerebral palsy

Acute polyradiculoneuritis: Guillain-Barré syndrome

Adductor spasticity in children with cerebral palsy and treatment with botulinum toxin type A: the parents' view of functional outcome

Aicardi-Goutières-Syndrom

Anti-GT1a IgG Antibodies in a Child With Severe Guillain-Barré Syndrome

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

Aszites und Abmagerung bei intrakranieller Raumforderung

Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase

Benigne Partialepilepsie des Kleinkindesalters (Watanabe)

Botulinum toxin A in children with cerebral palsy: evaluation of therapy using the Pediatric Evaluation of Disability Inventory (PEDI)

Botulinum-Toxin A

CNS late effects after ALL therapy in childhood. Part II: Conventional EEG recordings in asymptomatic long-term survivors of childhood ALL- An evaluation of the interferences between neurophysiology, neurology, psychology, and CNS morphology

CNS lipoma in patients with epidermal nevus syndrome

Central nervous system prophylaxis with high-dose methotrexate does not give rise to significant electroencephalographic changes in children with acute lymphoblastic leukemia

Cerebral regional hypometabolism caused by propofol-induced sedation in children with severe myoclonic epilepsy: a study using fluorodeoxyglucose positron emission tomography and statistical parametric mapping

Chronic myelopathy after combined chemo-radiotherapy in a patient with relapsed mediastinal B-cell lymphoma

Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients

Clinical impact of antibody formation to botulinum toxin A in children

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Compound Heterozygosity of the Protein S-Gene as a Cause of Severe Cerebral Sinovenous Thrombosis in a 7-Year-Old Child

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

Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families

Cystic Encephalomalacia following Vasculopathy and Vasospasm of Proximal Intracranial Arteries Due to Pneumococcal Meningitis in a Infant

D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome

Development of the corticospinal system and hand motor function: central conduction times and motor performance tests

Die Therapie spastischer Bewegungsstörungen im Kindesalter mit Botulinumtoxin A

Differential Analysis of Bone Density in Children and Adolescents with Neuromuscular Disorders and Cerebral Palsy

Differentiation of specific ripple patterns helps to identify epileptogenic areas for surgical procedures

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Echocardiographic and Electrocardiographic Findings of Cardiomyopathy in Duchenne and Becker?Kiener Muscular Dystrophies

Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial

Efficacy of lamotrigine and vigabatrin in drug-resistant epilepsies of childhood

Electrical stimulation for cortical mapping reduces the density of high frequency oscillations

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden?

Epilepsien mit prim�r generalisierten tonisch-klonischen Anf�llen bei Jugendlichen und Erwachsenen

Epilepsy in Aicardi-Goutières syndrome

Epilepsy surgery for glioneuronal tumors in childhood: avoid loss of time

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

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

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

Fast corticospinal system and motor performance in children: conduction proceeds skill

Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes

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

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma

Guillain–Barré syndrome and Fisher syndrome: Case definitions and guidelines for collection, analysis, and presentation of immunization safety data

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Handlungsempfehlung nach der Leitlinie „Guillain-Barré Syndrom im Kindes- und Jugendalter“

High frequency oscillations mirror disease activity in patients with focal cortical dysplasia

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

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease

Incidence of vasculopathy in children with hypothalamic/chiasmatic gliomas treated with brachytherapy

Increased urinary excretion of tubular enzymes and proteins in children with epilepsy

Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study

Inhibitory conditioning stimulus in transcranial magnetic stimulation reduces the number of excited spinal motor neurons.

Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome

Intravenously Administered Immunoglobulin in the Treatment of Childhood Guillain-Barre Syndrome: A Randomized Trial

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

Lack of response to botulinum toxin A in patients with hypertrophic pyloric stenosis

Long-term results of brachytherapy with temporary iodine-125 seeds in children with low-grade gliomas

MR findings in pontocerebellar hypoplasia ⬇️

Measuring muscle strength in clinical trials – Authors' reply

Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

Musculoskeletal pain: a new algorithm for differential diagnosis of a cardinal symptom in pediatrics

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

Neurologic, neuropsychologic, and electroencephalographic findings after European tick-borne encephalitis in children

Neurophysiological findings in long-term survivors of acute lymphoblastic leukaemia in childhood treated with the BFM protocol 81 SR-A/B.

Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature.

Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome