B. Plecko

发表

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.

L. Grivell, P. Vreken, R. Wanders, 2000, Biochemical and biophysical research communications.

New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency

B. Plecko, L. Crowther, D. Mathis, 2019, Journal of inherited metabolic disease.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

E. Moser, F. Ebner, D. Prayer, 2003, Neuropediatrics.

Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.

M. Ensslen, K. Rostásy, I. Borggraefe, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

K. Claeys, B. Ceulemans, M. Sereda, 2007, Archives of neurology.

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Berten Ceulemans, Salmo Raskin, Jurgen Del-Favero, 2003, Human mutation.

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

P. Striano, N. Longo, C. V. van Karnebeek, 2020, Journal of inherited metabolic disease.

Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines

M. Blankenburg, S. Rudnik-Schöneborn, B. Schoser, 2021, Children.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β‐galactosidase

U. Ramaswami, B. Plecko, C. Caillaud, 2009, Human mutation.

The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.

B. Plecko, J. Häberle, J. Nuoffer, 2016, JIMD reports.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

W. Schmidt, B. Plecko, M. Lee-Kirsch, 2017, Pediatric Rheumatology.

LC‐MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies

M. Hersberger, B. Plecko, D. Mathis, 2020, Journal of inherited metabolic disease.

Occasional seizures, epilepsy, and inborn errors of metabolism

O. Dulac, B. Plecko, N. Wolf, 2014, The Lancet Neurology.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

E. Bertini, A. Vanderver, Q. Waisfisz, 2017, Neurology.

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

B. Plecko, P. Kotanko, G. Rechberger, 2005, Rapid communications in mass spectrometry : RCM.

Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients

B. Plecko, M. Huemer, W. Sperl, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

J. H. van der Lee, J. Collet, C. V. van Karnebeek, 2012, Molecular genetics and metabolism.

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches

H. Köfeler, M. Trötzmüller, J. Hartler, 2020, Metabolites.

D. Sperl, B. Plecko, C. Urban, 2014, Pediatric hematology and oncology.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

A. Palla, B. Plecko, P. Burda, 2014, Orphanet Journal of Rare Diseases.

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Annals of neurology.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Oral β-Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia: Monitoring of β-Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy

E. Moser, V. Mlynárik, S. Gruber, 2002, Pediatric Research.

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

B. Plecko, J. Zschocke, D. Karall, 2013, Journal of Inherited Metabolic Disease.

Vitamin B6 dependent seizures.

B. Plecko, S. Stöckler, 2009, The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings

B. Plecko, D. Mathis, N. Parameswaran, 2018, Neuropediatrics.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination

H. Mefford, S. Gospe, P. Clayton, 2015, Neurology.

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

M. Baumgartner, B. Plecko, C. Jakobs, 2005, Neuropediatrics.

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine‐dependent epilepsy

B. Plecko, S. Stöckler‐Ipsiroglu, C. Jakobs, 2000, Annals of neurology.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

A. von Moers, B. Plecko, G. Bernert, 2019, Journal of neuromuscular diseases.

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

S. Papuc, H. Sticht, A. Rauch, 2014, Neuropediatrics.

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

T. Degrauw, J. Christodoulou, Y. Matsubara, 2006, Human mutation.

Brainstem disconnection: case report and review of the literature.

A. Poretti, E. Boltshauser, B. Plecko, 2007, Neuropediatrics.

Malignant stroke in a female adolescent (Discussion and Diagnosis)

E. Sorantin, K. Pfurtscheller, B. Plecko, 2009 .

Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency

K. Klavins, B. Plecko, B. Jilma, 2020, Journal of inherited metabolic disease.

Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland

C. Stuessi, S. Engberg, F. Sennhauser, 2018, BMC Pediatrics.

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

S. Wortmann, B. Plecko, D. Karall, 2020, Diagnostics.

Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians

T. Mayer, P. Ryvlin, C. Baumgartner, 2016, Epilepsia.

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

A. Blaschek, J. Denecke, B. Plecko, 2021, The Lancet. Child & adolescent health.

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

M. Baumgartner, M. Hochuli, M. Gautschi, 2020, Journal of inherited metabolic disease.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

B. Schlotter-Weigel, M. Blankenburg, P. Huppke, 2022, Orphanet Journal of Rare Diseases.

CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts

P. Vreken, F. Baas, R. Wanders, 2007 .

Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis

G. Giovannoni, C. Mache, B. Plecko, 2006, Journal of Neurology Neurosurgery & Psychiatry.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

L. Kappos, Y. Naegelin, H. Köfeler, 2022, Metabolites.

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?

B. Plecko, C. Jakobs, H. Hartmann, 2011, Developmental medicine and child neurology.

Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

B. Plecko, W. Erwa, B. Wermuth, 1998, European Journal of Pediatrics.

Safety and recommendations for vaccinations of children with inborn errors of metabolism.

B. Plecko, T. Lerman-Sagie, P. Dragoumi, 2021, European journal of paediatric neurology.

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

F. Lindbichler, C. Mache, B. Plecko, 2009, Molecular genetics and metabolism.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Robert W. Taylor, N. Kaya, B. Plecko, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

M. Baumgartner, H. Omran, B. Weschke, 2006, Nature Medicine.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

T. Suormala, E. R. Baumgartner, B. Plecko, 2001, European Journal of Pediatrics.

Pyridoxine responsiveness in novel mutations of the PNPO gene

P. Clayton, B. Plecko, M. Connolly, 2014, Neurology.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

M. Baumgartner, K. Mills, C. Morel, 2014, Brain : a journal of neurology.

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

C. V. van Karnebeek, S. Gospe, B. Plecko, 2014, JIMD reports.

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

C. V. van Karnebeek, S. Gospe, P. Clayton, 2011, Molecular genetics and metabolism.

Treatable newborn and infant seizures due to inborn errors of metabolism.

B. Plecko, J. Campistol, 2015, Epileptic disorders : international epilepsy journal with videotape.

Treatable Inborn Errors of Metabolism with seizures in the newborn and infant period

B. Plecko, J. Campistol, 2015 .

Disorders of Thiamine and Pyridoxine Metabolism

B. Plecko, Garry K. Brown, 2016 .

Vitamin B6-Dependent and Vitamin B6-Responsive Disorders

B. Plecko, E. Struys, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Disorders affecting vitamin B6 metabolism

P. Clayton, B. Plecko, P. Mills, 2019, Journal of inherited metabolic disease.

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

B. Plecko, L. Crowther, D. Mathis, 2022, Journal of inherited metabolic disease.

Pyridoxine and pyridoxalphosphate-dependent epilepsies.

B. Plecko, 2013, Handbook of clinical neurology.

Biochemical and molecular characterization of 18 patients with pyridoxine‐dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

B. Plecko, M. Freilinger, T. Luecke, 2007, Human mutation.

46 – Disorders of Vitamin Metabolism

B. Plecko, R. Steinfeld, 2017 .

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy

B. Plecko, J. Patsch, M. Freilinger, 2021, Hormone Research in Paediatrics.

Vitamin B6-Dependent and Responsive Disorders

B. Plecko, C. Jakobs, C. Jakobs, 2014 .

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

M. Hersberger, S. Papuc, A. Rauch, 2016, Journal of Inherited Metabolic Disease.

Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitis.

D. Nadal, B. Plecko, A. Moeller, 2016, Swiss medical weekly.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2008, Molecular genetics and metabolism.

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

M. Speicher, K. Girisha, H. Shah, 2021, Journal of Medical Genetics.

Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.

B. Plecko, I. Scheer, T. Güngör, 2013, The Pediatric infectious disease journal.

Neonatal Seizures—Are We there Yet?

G. Boylan, B. Plecko, C. Hagmann, 2019, Neuropediatrics.

Mutation analysis in patients with N‐acetylglutamate synthase deficiency

B. Plecko, J. Häberle, E. Schmidt, 2003, Human mutation.

Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.

B. Plecko, P. Kotanko, G. Sunder-Plassmann, 2011, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

B. Plecko, M. Spilioti, A. Evangeliou, 2021, JIMD reports.

Epilepsy in patients with propionic acidemia.

K. Rostásy, B. Plecko, D. Karall, 2009, Neuropediatrics.

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

K. Bötzel, R. Jech, B. Haslinger, 2020, Annals of neurology.

The clinical significance of small copy number variants in neurodevelopmental disorders

A. Ekici, D. Fitzpatrick, C. Thiel, 2014, Journal of Medical Genetics.

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

B. Plecko, A. Vellodi, H. Michelakakis, 2010, Clinical genetics.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Anselm H. C. Horn, Sharyn A. Lincoln, A. Verloes, 2019, Genetics in Medicine.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.

F. Baas, R. Wanders, T. Kuijpers, 2004, Blood.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

P. Vreken, F. Baas, R. Wanders, 2002, The Journal of pediatrics.

Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

H. Köfeler, B. Plecko, M. Zandl-Lang, 2023, International journal of molecular sciences.

Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.

B. Thöny, B. Plecko, I. Scheer, 2014, Epileptic disorders.

Multiomics tools for the diagnosis and treatment of rare neurological disease

Barbara Plecko, B. Plecko, L. Crowther, 2018, Journal of Inherited Metabolic Disease.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

T. Pieber, W. Löscher, J. Senderek, 2011, Journal of Neurology.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia

B. Plecko, G. Ginter, H. Lackner, 1993, European Journal of Pediatrics.

Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis

Silvano R. Gefferie, R. Huber, K. Rostásy, 2020, NeuroImage.

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

A. Janecke, B. Plecko, R. Seidl, 2014, European Journal of Pediatrics.

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Heinrich Sticht, Barbara Plecko, Bernhard Schmitt, 2016, Journal of Inherited Metabolic Disease.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

S. Naidu, G. Scheper, C. Proud, 2003, American journal of human genetics.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Zi-Fan Yu, Maurizio Scarpa, Paul Harmatz, 2010, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2010, Journal of pediatric rehabilitation medicine.

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

P. Kaplan, R. Steiner, B. Plecko, 2004, The Journal of pediatrics.

Malignant stroke in an adolescent with a homozygous MTHFR 677CT mutation and intake of hormonal contraceptives

K. Pfurtscheller, B. Plecko, W. Muntean, 2009, Hämostaseologie.

Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil

T. Wascher, M. Wilders-Truschnig, B. Plecko, 1995, Journal of Inherited Metabolic Disease.

Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula

B. Plecko, H. Till, E. Reininghaus, 2020, European Journal of Pediatrics.

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy

P. Striano, F. Zara, S. Papuc, 2017, Journal of Medical Genetics.

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

K. Yamakawa, H. Sticht, A. Rauch, 2019, Molecular medicine.

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

D. Seelow, D. Horn, S. Mundlos, 2021, Journal of Medical Genetics.

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

E. Bertini, D. Rodriguez, O. Boespflug-Tanguy, 2008, Neurology.

University of Groningen CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating

A. Elliott, B. Sluis, D. Dekker, 2019 .

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Barbara Plecko, D. Dekker, N. Huijkman, 2016, Nature Communications.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

E. Mariman, M. Schuelke, J. Smeitink, 1999, Nature Genetics.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Andrea Klein, Barbara Plecko, S. Papuc, 2017, PloS one.

Metabolic epilepsies: approaches to a diagnostic challenge.

B. Plecko, S. Stöckler‐Ipsiroglu, S. Stöckler‐ipsiroglu, 2009, The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.

Das therapeutische Repertoir bei Schlafstörungen im Kindesalter: I. Allgemeine Grundsätze und medikamentöse Therapie Therapy of sleep disturbances in childhood and adolescence: I. Principles and pharmacologic therapy

M. Blankenburg, I. Tuxhorn, C. Bönnemann, 2008 .

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

B. Plecko, D. Karall, W. Sperl, 2015, Orphanet Journal of Rare Diseases.

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

W. Mandemakers, R. Jech, J. Winkelmann, 2021, Parkinsonism & related disorders.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

E. Bertini, R. Carrozzo, A. Kessel, 2019, Journal of inherited metabolic disease.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

M. Speicher, T. Pieber, V. Timmerman, 2008, Neuropediatrics.

TPK1 Deficiency—A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern

B. Plecko, 2021, Neuropediatrics.

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly

B. Plecko, G. Natalucci, J. Wisser, 2017, Fetal Diagnosis and Therapy.

Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

M. Speicher, B. Plecko, S. Verheyen, 2020, Neurology: Genetics.

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

W. Löscher, S. Wortmann, B. Plecko, 2021, Journal of inherited metabolic disease.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

H. Hartung, V. Timmerman, B. Plecko, 2002, Brain : a journal of neurology.

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

S. Wortmann, B. Plecko, D. Karall, 2021, Orphanet Journal of Rare Diseases.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

B. Plecko, L. Bok, P. Mills, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Molecular genetics and metabolism.

Moyamoya Angiopathy in Children: Clinical Characteristics of 26 Patients

B. Plecko, N. Khan, A. Hackenberg, 2014 .

Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.

A. Kautzky-Willer, B. Plecko, D. Karall, 2021, Molecular genetics and metabolism.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

P. Robinson, D. Horn, S. Mundlos, 2014, European Journal of Human Genetics.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

S. Nampoothiri, K. Kutsche, A. Janecke, 2021, Brain : a journal of neurology.

The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years

B. Plecko, E. Paschke, T. Kroepfl, 2001, Clinical genetics.

Confirmation of a Causal Role for SHQ1 Variants in Early Infantile‐Onset Recessive Dystonia

J. Winkelmann, S. Boesch, B. Plecko, 2022, Movement disorders : official journal of the Movement Disorder Society.

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

B. Plecko, M. Koko, R. Berutti, 2022, Frontiers in Pediatrics.

On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies

B. Plecko, 2023, Journal of Inherited Metabolic Disease.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

G. Giovannoni, C. Mache, B. Plecko, 2005 .

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

S. Züchner, P. Bauer, R. Schüle, 2019, Brain : a journal of neurology.

Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype

T. Meitinger, H. Prokisch, T. Haack, 2013 .

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

P. Robinson, D. Horn, S. Mundlos, 2015, European Journal of Human Genetics.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease

M. Bumbasirevic, A. Lešić, B. Plecko, 2006, Journal of Inherited Metabolic Disease.

Why child neurologists should have vitamine B6 in their pockets.

B. Plecko, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Heinrich Sticht, Hanns Ulrich Zeilhofer, Yushi Inoue, 2019, Molecular Medicine.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.