J. Johannsen

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First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American journal of human genetics.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

T. Strom, A. Fatemi, R. Abou Jamra, 2017, American journal of human genetics.

Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study

T. Sejersen, A. Childs, M. Walter, 2022, Journal of medical economics.

Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness

T. Meitinger, T. Strom, F. Kortüm, 2019 .

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

A. Blaschek, M. Spraul, S. Kölker, 2021, Orphanet Journal of Rare Diseases.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

F. Kortüm, D. Lessel, J. Denecke, 2021, Neonatology.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

K. Kutsche, J. Matschke, J. Lisfeld, 2022, Human mutation.

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.

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

T. Haack, J. Denecke, M. Hempel, 2017, Pediatrics and neonatology.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

J. Denecke, M. Hempel, J. Buhk, 2020, Neuropediatrics.

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.

Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

J. Denecke, M. Groth, J. Johannsen, 2020, Neuropediatrics.

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.

J. Denecke, K. Wegscheider, A. Daubmann, 2022, BMC Pediatrics.

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

J. Denecke, F. Müller, J. Johannsen, 2022, European Archives of Oto-Rhino-Laryngology.

Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti–N‐Methyl‐D‐Aspartate Receptor Encephalitis

M. Blankenburg, K. Rostásy, E. Knierim, 2020, Annals of Neurology.

Mucha‐Habermann disease: a pediatric case report and proposal of a risk score

M. Lennartz, Joenna Driemeyer, G. Escherich, 2021, International journal of dermatology.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

T. Strom, D. Wieczorek, D. Lessel, 2020, American journal of medical genetics. Part A.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

F. Kortüm, L. Graul-Neumann, K. Kloth, 2021, neurogenetics.

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

F. Kortüm, J. Denecke, G. Rosenberger, 2018, neurogenetics.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

J. Denecke, J. Johannsen, A. Schulz, 2016, Neuropediatrics.

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?

J. Denecke, J. Johannsen, S. Wiegand-Grefe, 2020, Health and Quality of Life Outcomes.

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

J. Denecke, M. Hempel, P. Deindl, 2019, Journal of Pediatric Genetics.

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Nancy T. Malintan, N. Wood, A. Chiriță-Emandi, 2019, European journal of neurology.

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

G. Obermair, B. Flucher, K. Kutsche, 2020, PLoS genetics.

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

R. Finkel, K. Mathews, J. Statland, 2021, Journal of neuromuscular diseases.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

R. Carrozzo, M. Shinawi, M. Tartaglia, 2020, American journal of human genetics.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

K. Kutsche, D. Grange, J. Juusola, 2019, Human Genetics.

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Nurit Assia Batzir, N. Orenstein, J. Denecke, 2021, Annals of neurology.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

H. Prokisch, F. Kortüm, S. Wortmann, 2021, Clinical genetics.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

J. Denecke, A. Daubmann, J. Johannsen, 2021, Journal of cellular and molecular medicine.

Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing

B. Röder, J. Johannsen, 2014, Front. Hum. Neurosci..

Clinical and MRI Outcome Predictors in Pediatric Anti-NMDA Receptor Encephalitis.

M. Blankenburg, K. Rostásy, E. Knierim, 2020, Annals of neurology.

Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study

S. Petri, A. Blaschek, B. Schrank, 2022, Journal of neuromuscular diseases.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

J. Denecke, H. Kölbel, U. Schara, 2018, Journal of neuromuscular diseases.

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

K. Rostásy, E. Knierim, J. Denecke, 2023, Neurology: Neuroimmunology & Neuroinflammation.

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

J. Denecke, Joenna Driemeyer, J. Johannsen, 2023, International journal of environmental research and public health.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

H. Lochmüller, D. Zöller, A. von Moers, 2022, Brain : a journal of neurology.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

K. Kutsche, D. Grange, J. Juusola, 2019, Human Genetics.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

G. Acsadi, M. Scoto, E. Finanger, 2024, The Lancet Neurology.

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

F. Kortüm, J. Denecke, G. Rosenberger, 2018, neurogenetics.

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

A. Pechmann, J. Johannsen, S. Illsinger, 2024, Orphanet journal of rare diseases.