Manuela Pendziwiat

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci

Manuela Pendziwiat, I. Helbig, K. Klein, 2019, Epilepsia.

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

Colin A. Ellis, R. Krause, Manuela Pendziwiat, 2020, American journal of human genetics.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

S. Topp, M. Simpson, P. Fallon, 2020, Epilepsia.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study

Manuela Pendziwiat, U. Koehler, J. Kirschner, 2018, Cytoskeleton.

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

E. Ringelstein, Manuela Pendziwiat, M. Hund, 2010, American journal of human genetics.

Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation

S. Berkovic, A. Korczyn, Manuela Pendziwiat, 2016, Epilepsia.

Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules

Manuela Pendziwiat, C. Sindelar, G. Kuhlenbäumer, 2013, The Journal of cell biology.

Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy

Alan J. Thomas, G. Schellenberg, G. Deuschl, 2022, Movement disorders : official journal of the Movement Disorder Society.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

M. Hammer, Manuela Pendziwiat, I. Helbig, 2022, Epilepsia.

Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

A. Korczyn, Manuela Pendziwiat, I. Helbig, 2014, Journal of child neurology.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

Manuela Pendziwiat, H. Muhle, R. Møller, 2022, Neurology: Genetics.

Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.

S. Ehl, Manuela Pendziwiat, I. Helbig, 2021, The Journal of allergy and clinical immunology.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ Report of seven new subjects and review of the literature

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Manuela Pendziwiat, R. Møller, I. Helbig, 2016, Molecular genetics & genomic medicine.

Association of Essential Tremor With Novel Risk Loci

M. Hallett, J. Jankovic, G. Deuschl, 2022, JAMA neurology.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

F. Rosenow, Manuela Pendziwiat, I. Helbig, 2017, Journal of Neurology.

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

P. May, P. Striano, H. Lerche, 2021, medRxiv.

DNM1 encephalopathy

I. Scheffer, H. Kirsch, S. Sisodiya, 2017, Neurology.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease

A. Singleton, G. Deuschl, D. Berg, 2013, Movement disorders : official journal of the Movement Disorder Society.

Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy

Manuela Pendziwiat, H. Muhle, Y. Weber, 2020, Neuropediatrics.

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Manuela Pendziwiat, G. Kuhlenbäumer, A. Shalash, 2021, neurogenetics.

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Manuela Pendziwiat, I. Helbig, G. Kuhlenbäumer, 2020, Annals of clinical and translational neurology.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

G. Rubboli, Manuela Pendziwiat, R. Møller, 2021, Frontiers in Genetics.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

S. Leal, M. Zeviani, P. Striano, 2021, American journal of human genetics.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Manuela Pendziwiat, Y. Weber, I. Helbig, 2022, EBioMedicine.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

Manuela Pendziwiat, Y. Weber, I. Helbig, 2021, bioRxiv.

Genome-wide association study of autopsy-confirmed Multiple System Atrophy identifies common variants near ZIC1 and ZIC4

Alan J. Thomas, A. Peters, G. Schellenberg, 2021, medRxiv.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia

F. Rosenow, L. Sheintuch, Manuela Pendziwiat, 2015, Journal of Neurology.

Differential aggregation properties of alpha-synuclein isoforms

Manuela Pendziwiat, G. Kuhlenbäumer, J. Grötzinger, 2014, Neurobiology of Aging.

Stephan J Sanders, P. Striano, G. Rubboli, 2023, Annals of neurology.

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

Manuela Pendziwiat, Y. Weber, I. Helbig, 2023, Frontiers in Neurology.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Rare variants in ANO3 are not a susceptibility factor in essential tremor.

G. Deuschl, S. Schneider, Manuela Pendziwiat, 2014, Parkinsonism & related disorders.

The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy

P. Striano, J. Kosmicki, Manuela Pendziwiat, 2017, bioRxiv.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

The impact of rare variants in FUS in essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2015, Movement disorders : official journal of the Movement Disorder Society.

AJHG The American Journal of Human Genetics Biallelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

S. Leal, M. Zeviani, P. Striano, 2021 .