Jessika Johannsen

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
  2018 L1 76/100

1 assessed by us (1 reproduced) · 114 not yet assessed — every PubMed paper on record, linked below.

• Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence ↗

  Zurich Open Repository and Archive (University of Zurich) · 2026
  not yet assessed
• Real-World Outcomes of Risdiplam in 5q Spinal Muscular Atrophy Over 30 Months in Adolescents and Adults: A Multicentre, Prospective, Observational SMArtCARE Study ↗

  SSRN Electronic Journal · 2026
  not yet assessed
• Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland – part II – expert based recommendations for surveillance and management of side-effects ↗

  Journal of Neuromuscular Diseases · 2026 · PMID 42658895
  not yet assessed
• Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence ↗

  Journal of Neuromuscular Diseases · 2025 · PMID 41284552
  not yet assessed
• Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry ↗

  Brain · 2025 · PMID 41431300
  not yet assessed
• Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study ↗

  Journal of Neuromuscular Diseases · 2025 · PMID 40938628
  not yet assessed
• Do We Do Genetic Testing Early Enough for Cardiomyopathies? ↗

  The Thoracic and Cardiovascular Surgeon · 2025
  not yet assessed
• Prädiktion der Schluckentwicklung bei medikamentös therapierten Säuglingen mit Spinaler Muskelatrophie: eine prospektiv kontrollierte Studie ↗

  Nervenheilkunde · 2025
  not yet assessed
• Pädiatrische Neurologie - Neuropädiatrie ↗

  2025
  not yet assessed
• Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk ↗

  Frontiers in Neurology · 2025 · PMID 40703772
  not yet assessed
• Leukencephalopathy with Calcifications and Cysts: A Case Report of Clinical Improvement with Tiapride ↗

  Neuropediatrics · 2025
  not yet assessed
• 103PPathogenic BICD2 variants, associated phenotypes and related blood biomarkers – a study of 16 new patients ↗

  Neuromuscular Disorders · 2025
  not yet assessed
• Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial ↗

  The Lancet Neurology · 2024 · PMID 38508835
  not yet assessed
• Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy ↗

  Archives of Pediatrics and Adolescent Medicine · 2024 · PMID 38587854
  not yet assessed
• Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study ↗

  The Lancet Regional Health - Europe · 2024 · PMID 39434961
  not yet assessed
• Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life ↗

  European Journal of Paediatric Neurology · 2024 · PMID 38772209
  not yet assessed
• 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 ↗

  Journal of Neurology · 2024 · PMID 38409538
  not yet assessed
• Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview study ↗

  BMC Psychology · 2024 · PMID 39420400
  not yet assessed
• DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing ↗

  Journal of Neuromuscular Diseases · 2024 · PMID 38457144
  not yet assessed
• Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening ↗

  Orphanet Journal of Rare Diseases · 2024 · PMID 39327607
  not yet assessed
• Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids ↗

  International Journal of Molecular Sciences · 2024 · PMID 39596191
  not yet assessed
• Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial ↗

  Obstetrical & Gynecological Survey · 2024
  not yet assessed
• Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity ↗

  Neuropediatrics · 2024 · PMID 38181817
  not yet assessed
• 195P Real-world data on the effectiveness and safety of onasemnogene abeparvovec in spinal muscular atrophy ↗

  Neuromuscular Disorders · 2024
  not yet assessed
• The Epidys Givinostat Study in DMD: Supportive Results ↗

  Neuropediatrics · 2024
  not yet assessed
• Prolonged Apnea in a Boy with Epilepsy and a Novel Gain-of-Function Missense Cacna1a Variant Indicating Sudep Risk ↗

  SSRN Electronic Journal · 2024
  not yet assessed
• Designing structured postgraduate training programs using agile methods ↗

  PubMed · 2024 · PMID 39711869
  not yet assessed
• Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ↗

  Brain · 2023 · PMID 38038360
  not yet assessed
• Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis ↗

  Neurology Neuroimmunology & Neuroinflammation · 2023 · PMID 36948591
  not yet assessed
• Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy ↗

  International Journal of Environmental Research and Public Health · 2023 · PMID 37047974
  not yet assessed
• High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy ↗

  Frontiers in Pediatrics · 2023 · PMID 38034835
  not yet assessed
• Givinostat in Duchenne Muscular Dystrophy: Effect on Disease Milestones ↗

  Neuropediatrics · 2023
  not yet assessed
• Givinostat in DMD: Results of the EPIDYS Study with Particular Attention to NSAA ↗

  Neuropediatrics · 2023
  not yet assessed
• Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA) ↗

  Neuropediatrics · 2023
  not yet assessed
• Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy ↗

  Brain · 2022 · PMID 35857854
  not yet assessed
• Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study ↗

  Orphanet Journal of Rare Diseases · 2022 · PMID 36274155
  not yet assessed
• Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study ↗

  Journal of Neuromuscular Diseases · 2022 · PMID 36565133
  not yet assessed
• Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy ↗

  European Archives of Oto-Rhino-Laryngology · 2022 · PMID 36209319
  not yet assessed
• Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings ↗

  BMC Pediatrics · 2022 · PMID 36229869
  not yet assessed
• Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study ↗

  Journal of Medical Economics · 2022 · PMID 35642753
  not yet assessed
• Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala) ↗

  Human Mutation · 2022 · PMID 35510366
  not yet assessed
• Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis ↗

  Neonatology · 2021 · PMID 34237744
  not yet assessed
• A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial ↗

  Journal of Neuromuscular Diseases · 2021 · PMID 34120912
  not yet assessed
• Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen ↗

  Journal of Cellular and Molecular Medicine · 2021 · PMID 34312963
  not yet assessed
• 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy ↗

  Orphanet Journal of Rare Diseases · 2021 · PMID 34670613
  not yet assessed
• Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort ↗

  Clinical Genetics · 2021 · PMID 34490615
  not yet assessed
• More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly ↗

  Neurogenetics · 2021 · PMID 34013494
  not yet assessed
• Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia ↗

  Annals of Neurology · 2021 · PMID 34564892
  not yet assessed
• Mucha‐Habermann disease: a pediatric case report and proposal of a risk score ↗

  International Journal of Dermatology · 2021 · PMID 34287852
  not yet assessed
• Real-World Data for Onasemnogen Abeparvovec (Zolgensma) in Spinal Muscular Atrophy ↗

  Neuropediatrics · 2021
  not yet assessed
• Author response for "Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort" ↗

  2021
  not yet assessed
• Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children ↗

  Neuropediatrics · 2021
  not yet assessed
• Levetiracetam as a Therapeutic Option in the Treatment of MR1-Associated Paroxysmal Nonkinesigenic Dyskinesias in Children: A Case Report ↗

  Neuropediatrics · 2021
  not yet assessed
• Supplementary Material for: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis ↗

  Figshare · 2021
  not yet assessed
• Germline AGO2 mutations impair RNA interference and human neurological development ↗

  Nature Communications · 2020 · PMID 33199684
  not yet assessed
• New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics ↗

  Genetics in Medicine · 2020 · PMID 33149277
  not yet assessed
• Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti–N‐Methyl‐D‐Aspartate Receptor Encephalitis ↗

  Annals of Neurology · 2020 · PMID 32314416
  not yet assessed
• Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 ↗

  Der Nervenarzt · 2020 · PMID 32394004
  not yet assessed
• A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration ↗

  The American Journal of Human Genetics · 2020 · PMID 33217309
  not yet assessed
• A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions ↗

  PLoS Genetics · 2020 · PMID 32176688
  not yet assessed
• Nine newly identified individuals refine the phenotype associated with MYT1L mutations ↗

  American Journal of Medical Genetics Part A · 2020 · PMID 32065501
  not yet assessed
• The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective? ↗

  Health and Quality of Life Outcomes · 2020 · PMID 32646436
  not yet assessed
• Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center ↗

  Neuropediatrics · 2020 · PMID 33276405
  not yet assessed
• The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation ↗

  Neuropediatrics · 2020 · PMID 32818970
  not yet assessed
• Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie ↗

  Monatsschrift Kinderheilkunde · 2020
  not yet assessed
• Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ↗

  Genetics in Medicine · 2020 · PMID 32814847
  not yet assessed
• Gene therapy for spinal muscular atrophy with onasemnogene abeparvovec. Statement of the German Speaking Society of Neuropediatrics ↗

  Bern Open Repository and Information System (University of Bern) · 2020
  not yet assessed
• Paralog Studies Augment Gene Discovery: DDX and DHX Genes ↗

  The American Journal of Human Genetics · 2019 · PMID 31256877
  not yet assessed
• Phenotype in an Infant with SOD1 Homozygous Truncating Mutation ↗

  New England Journal of Medicine · 2019 · PMID 31314961
  not yet assessed
• Exome Sequencing in Children ↗

  Deutsches Ärzteblatt international · 2019 · PMID 31056085
  not yet assessed
• Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination ↗

  European Journal of Neurology · 2019 · PMID 31509304
  not yet assessed
• Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype ↗

  Human Genetics · 2019 · PMID 30963242
  not yet assessed
• Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant ↗

  Journal of Pediatric Genetics · 2019 · PMID 31687261
  not yet assessed
• Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1 ↗

  Journal of Neuromuscular Diseases · 2019 · PMID 31744015
  not yet assessed
• MAST1-Gene Variations: A New Monogenetic Neuronal Migration Disorder Causing Congenital Bilateral Perisylvian Syndrome (CBPS) ↗

  Neuropediatrics · 2019
  not yet assessed
• Late Diagnosis of Pyridoxine-dependent Epilepsy due to a PROSC-mutation with Whole-exome-Sequencing and Natural History without Administration of Pyridoxine until Adolescence ↗

  Neuropediatrics · 2019
  not yet assessed
• EEG Scoring in Degenerative Brain Diseases of Childhood: The Pediatric Neurodegeneration EEG Scoring (PNES) ↗

  Neuropediatrics · 2019
  not yet assessed
• Clinical Spectrum in DNM1 Mutation Beyond Epileptic Encephalopathy Type 31 ↗

  Neuropediatrics · 2019
  not yet assessed
• Management of Giant Carotid Aneurysm with Occlusion of the Carotid Artery - Case Report and Discussion of Treatment Strategies ↗

  Neuropediatrics · 2019
  not yet assessed
• Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany ↗

  Journal of Neuromuscular Diseases · 2018 · PMID 29689734
  not yet assessed
• KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ↗

  Genetics in Medicine · 2018 · PMID 30245513
  not yet assessed
• A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

  Neurogenetics · 2018 · PMID 29808465
  L1 76/100
• P 1147. Pyridostigmine Leads to Relevant Improvement of Motor Function in an Infant with RYR1-Related Congenital Myopathy ↗

  Neuropediatrics · 2018
  not yet assessed
• P 960. Intrathecal Administration of Nusinersen in Patients with SMA: Experience and Challenges—A Single-Center Report ↗

  Neuropediatrics · 2018
  not yet assessed
• Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome ↗

  The American Journal of Human Genetics · 2017 · PMID 28132690
  not yet assessed
• De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities ↗

  The American Journal of Human Genetics · 2017 · PMID 29220673
  not yet assessed
• Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern ↗

  Praxis der Kinderpsychologie und Kinderpsychiatrie · 2017 · PMID 29111898
  not yet assessed
• First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features ↗

  European Journal of Medical Genetics · 2017 · PMID 28687526
  not yet assessed
• A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities ↗

  Neuropediatrics · 2017
  not yet assessed
• Respiratory Distress and Encephalopathy: Fat Embolism Syndrome in Duchenne Muscular Dystrophy ↗

  Neuropediatrics · 2017
  not yet assessed
• Sehstörung und Parästhesien mit seltener Ursache ↗

  Monatsschrift Kinderheilkunde · 2017
  not yet assessed
• The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf ↗

  Neuropediatrics · 2017
  not yet assessed
• Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease ↗

  Neuropediatrics · 2016 · PMID 27043294
  not yet assessed
• Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins ↗

  Pediatrics & Neonatology · 2016 · PMID 27989427
  not yet assessed
• De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment ↗

  The American Journal of Human Genetics · 2015 · PMID 26340335
  not yet assessed
• ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy ↗

  Neuropediatrics · 2015
  not yet assessed
• Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

  54th Annual ESPE · 2015
  not yet assessed
• Lebensqualität von chronisch erkrankten Kindern und ihren Familien

  2015
  not yet assessed
• Lebensqualität von langzeitbeatmeten Kindern und ihren Familien ↗

  German Medical Science (German Research Foundation) · 2015
  not yet assessed
• Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing ↗

  Frontiers in Human Neuroscience · 2014 · PMID 25120454
  not yet assessed
• Two Faces of Genetic Epilepsy Caused by a Mutation in the SCN8A Gene ↗

  Neuropediatrics · 2014
  not yet assessed
• Intra- and cross-modal refractory period effects in healthy children and adults: An ERP study ↗

  Neuropediatrics · 2013
  not yet assessed
• Vagusnervstimulation bei epileptischen Enzephalopathien ↗

  Clinical Epileptology · 2010
  not yet assessed
• G.P.3 08 Novel mutations in the CHRNB1 gene in three patients affected by a congenital myasthenic syndrome ↗

  Neuromuscular Disorders · 2006
  not yet assessed
• Ptosis, microcephaly and delayed motor development as main clinical manifestations in a female patient with chromosome 18p deletion-syndrome ↗

  Neuropediatrics · 2006
  not yet assessed
• Partial trisomy 5p and deletion of the 1p region causes severe psychomotor delay, refractory epilepsy and cleft lip and palate in a 10-year old girl - a long way to diagnosis ↗

  Neuropediatrics · 2006
  not yet assessed
• [Aging as a chance--aging as a risk]. ↗

  PubMed · 1997 · PMID 9499491
  not yet assessed
• Praxis stationärer systemischer Therapie bei depressiv Erkrankten ↗

  Steinkopff eBooks · 1997
  not yet assessed
• Konzepte und Möglichkeiten stationärer systemischer Therapie in der Gerontopsychiatrie ↗

  Steinkopff eBooks · 1997
  not yet assessed
• Beobachtungen und Interventionen bei Dementen und ihrem Bezugssystem aus systemischer Sicht ↗

  Steinkopff eBooks · 1994
  not yet assessed
• Depression im Alter — anders gesehen ↗

  1993
  not yet assessed
• Systemische Therapie bei gerontopsychiatrischen Patienten unter stationären Bedingungen ↗

  1993
  not yet assessed
• Pressure ulcer incidence and severity in a community hospital. ↗

  PubMed · 1992 · PMID 1418594
  not yet assessed
• Selective beta-1 receptor blockade with oral practolol in man. A dose-related phenomenon. ↗

  Journal of Clinical Investigation · 1975 · PMID 239966
  not yet assessed
• Efferent pathways of the coronary chemoreflex. ↗

  PubMed · 1975 · PMID 1138023
  not yet assessed