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
Brandt M, Driemeyer J, Johannsen J, Denecke J, Inhestern L, Bergelt C
BMC PSYCHOL. 2024;12(1):566.

Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis
Grinstein L, Hecher L, Weiss D, Johannsen J, Denecke J
NEUROPEDIATRICS. 2024;55(2):117-123.

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Mercuri E, Vilchez J, Boespflug-Tanguy O, Zaidman C, Mah J, Goemans N, Müller-Felber W, Niks E, Schara-Schmidt U, Bertini E, Comi G, Mathews K, Servais L, Vandenborne K, Johannsen J, Messina S, Spinty S, McAdam L, Selby K, Byrne B, Laverty C, Carroll K, Zardi G, Cazzaniga S, Coceani N, Bettica P, McDonald C
LANCET NEUROL. 2024;23(4):393-403.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Rinaldi B, Bayat A, Zachariassen L, Sun J, Ge Y, Zhao D, Bonde K, Madsen L, Awad I, Bagiran D, Sbeih A, Shah S, El-Sayed S, Lyngby S, Pedersen M, Stenum-Berg C, Walker L, Krey I, Delahaye-Duriez A, Emrick L, Sully K, Murali C, Burrage L, Plaud Gonzalez J, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi M, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch S, Au P, Ayala Valenzuela F, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li W, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller R, Tümer Z, Musgaard M, Gerard B, Lemke J, Shi Y, Kristensen A
BRAIN. 2024;147(5):1837-1855.

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
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann G, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz F, Vill K, Wick W, Weiler M, Okun J, Ziegler A
INT J MOL SCI. 2024;25(22):.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain R, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter M, Kirschner J, Pechmann A
JAMA PEDIATR. 2024;178(6):540-547.

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
Steffens P, Weiss D, Perez A, Appel M, Weber P, Weiss C, Stoltenburg C, Ehinger U, von der Hagen M, Schallner J, Claussen B, Lode I, Hahn A, Schuler R, Ruß L, Ziegler A, Denecke J, Johannsen J
EUR J PAEDIATR NEURO. 2024;51:17-23.

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Trollmann R, Johannsen J, Vill K, Köhler C, Hahn A, Illsinger S, Pechmann A, Hagen M, Müller-Felber W
ORPHANET J RARE DIS. 2024;19(1):353.

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Vill K, Tacke M, König A, Baumann M, Baumgartner M, Steinbach M, Bernert G, Blaschek A, Deschauer M, Flotats-Bastardas M, Friese J, Goldbach S, Gross M, Günther R, Hahn A, Hagenacker T, Hauser E, Horber V, Illsinger S, Johannsen J, Kamm C, Koch J, Koelbel H, Koehler C, Kolzter K, Lochmüller H, Ludolph A, Mensch A, Meyer Zu Hoerste G, Mueller M, Mueller-Felber W, Neuwirth C, Petri S, Probst-Schendzielorz K, Pühringer M, Steinbach R, Schara-Schmidt U, Schimmel M, Schrank B, Schwartz O, Schlachter K, Schwerin-Nagel A, Schreiber G, Smitka M, Topakian R, Trollmann R, Tuerk M, Theophil M, Rauscher C, Vorgerd M, Walter M, Weiler M, Weiss C, Wilichowski E, Wurster C, Wunderlich G, Zeller D, Ziegler A, Kirschner J, Pechmann A
J NEUROL. 2024;271(5):2787-2797.

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
Weiß C, Becker L, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen M, Husain R, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner G, Cirak S, Hasselmann O, Kaindl A, Garbade S, Johannsen J, Ziegler A
LANCET REG HEALTH-EU. 2024;47:101092.

DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
Zang J, Witt S, Johannsen J, Weiss D, Denecke J, Dumitrascu C, Nießen A, Quitmann J, Pflug C, Flügel T
J NEUROMUSCULAR DIS. 2024;11(2):473-483.

Akute MOG-Antikörper positive Encephalomyelitis bei einer 17 Jahre alten Patientin
Gärtner J, Johannsen J, Denecke J
Neuropäd Klin Prax. 2023;22(3):112-115.

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
Inhestern L, Brandt M, Driemeyer J, Denecke J, Johannsen J, Bergelt C
INT J ENV RES PUB HE. 2023;20(7):5360.

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Müller F, Schütt M, Trollmann R, Kölbel H, Schara-Schmidt U, Kirschner J, Pechmann A, Blaschek A, Horber V, Denecke J
FRONT PEDIATR. 2023;11:1259293.

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
Nikolaus M, Rausch P, Rostásy K, Bertolini A, Wickström R, Johannsen J, Denecke J, Breu M, Schimmel M, Diepold K, Haeusler M, Quade A, Berger A, Rosewich H, Steen C, von Au K, Dreesmann M, Finke C, Bartels F, Kaindl A, Schuelke M, Knierim E
NEUROL-NEUROIMMUNOL. 2023;10(3):.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter M, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain R, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J
BRAIN. 2023;146(2):668-677.

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter M, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch J, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J
J NEUROMUSCULAR DIS. 2023;10(1):29-40.

Interventionelle Behandlung eines Riesenaneurysma der extrakraniellen Arteria carotis interna bei einem 4-jährigen Kind: ein Fallbericht
Weiss D, Strohm T, Johannsen J, Buhk J, Denecke J
Neuropäd Klin Prax. 2023;22(2):68-71.

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
Zang J, Johannsen J, Denecke J, Weiss D, Koseki J, Nießen A, Müller F, Nienstedt J, Flügel T, Pflug C
EUR ARCH OTO-RHINO-L. 2023;280(3):1329-1338.

Mucha-Habermann disease: a pediatric case report and proposal of a risk score
Blohm M, Ebenebe C, Rau C, Escherich C, Johannsen J, Escherich G, Driemeyer J, Nagel P, Kobbe R, Lütgehetmann M, Lennartz M, Booken N, Schneider S, Singer D
INT J DERMATOL. 2022;61(4):401-409.

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen H, Kutsche K
HUM MUTAT. 2022;43(9):1224-1233.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter M, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain R, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J
ORPHANET J RARE DIS. 2022;17(1):.

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
Weiß C, Ziegler A, Becker L, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain R, Rauscher C, Trollmann R, Garbade S, Hahn A, von der Hagen M, Kaindl A
LANCET CHILD ADOLESC. 2022;6(1):17-27.

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
Wiegand-Grefe S, Liedtke A, Morgenstern L, Hoff A, Csengoe-Norris A, Johannsen J, Denecke J, Barkmann C, Grolle B, Daubmann A, Wegscheider K, Boettcher J
BMC PEDIATR. 2022;22(1):596.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown K, Bruel A, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon A, Dyment D, Engels H, Fisher R, Goh E, Hajianpour M, Haertel L, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them F, McDermott J, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer K, Russo M, Sadleir L, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven A, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A
GENET MED. 2021;23(3):543-554.

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
Finkel R, McDonald C, Lee Sweeney H, Finanger E, Neil Knierbein E, Wagner K, Mathews K, Marks W, Statland J, Nance J, McMillan H, McCullagh G, Tian C, Ryan M, O'Rourke D, Müller-Felber W, Tulinius M, Burnette W, Nguyen C, Vijayakumar K, Johannsen J, Phan H, Eagle M, MacDougall J, Mancini M, Donovan J
J NEUROMUSCULAR DIS. 2021;8(5):769-784.

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Johannsen J, Weiss D, Daubmann A, Schmitz L, Denecke J
J CELL MOL MED. 2021;25(17):8419-8431.

Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center
Johannsen J, Weiss D, Schlenker F, Groth M, Denecke J
NEUROPEDIATRICS. 2021;52(3):179-185.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly
Kloth K, Graul-Neumann L, Hermann K, Johannsen J, Bierhals T, Kortüm F
NEUROGENETICS. 2021;22(3):221-224.

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann G, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz F, Vill K, Wick W, Weiler M, Okun J, Ziegler A
ORPHANET J RARE DIS. 2021;16(1):.

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob C, Hempel M, Brozkova D, Jiang H, Kim S, Batzir N, Orenstein N, Bierhals T, Johannsen J, Meszarosova A, Chae J, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J
ANN NEUROL. 2021;90(5):738-750.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Bartels F, Krohn S, Nikolaus M, Johannsen J, Wickström R, Schimmel M, Häusler M, Berger A, Breu M, Blankenburg M, Stoffels J, Hendricks O, Bernert G, Kurlemann G, Knierim E, Kaindl A, Rostásy K, Finke C
ANN NEUROL. 2020;88(1):148-159.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed M, Rahbeeni Z, AlZaidan H, Malintan N, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani S, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy N, AlQuait L, Qari A, Huma R, Salih M, Almass R, Almutairi F, Hamad M, Alorainy I, Ramzan K, Imtiaz F, Puiu M, Kruer M, Bierhals T, Wood N, Colak D, Houlden H, Kaya N
EUR J NEUROL. 2020;27(2):334-342.

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
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair G, Hempel M, Flucher B, Kutsche K
PLOS GENET. 2020;16(3):e1008625.

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
Hecher L, Johannsen J, Bierhals T, Buhk J, Hempel M, Denecke J
NEUROPEDIATRICS. 2020;51(6):435-439.

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?
Johannsen J, Fuhrmann L, Grolle B, Morgenstern L, Wiegand-Grefe S, Denecke J
HEALTH QUAL LIFE OUT. 2020;18(1):219.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan T, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy J, McCormick E, Hakonarson H, Falk M, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp C, Nibbeling E, Dingemans A, Douine E, Nelson S, Arboleda V, Newbury-Ecob R
GENET MED. 2020;22(11):1920.

Germline AGO2 mutations impair RNA interference and human neurological development
Lessel D, Zeitler D, Reijnders M, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan E, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink H, Cham B, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias K, Evans C, Andrews P, Roscioli T, Brunner H, Chijiwa C, Lewis M, Jamra R, Dyment D, Boycott K, Stegmann A, Kubisch C, Tan E, Mirzaa G, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp H
NAT COMMUN. 2020;11(1):5797.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J
J NEUROMUSCULAR DIS. 2020;7(1):41-46.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya M, Barbini C, Martinelli D, Harms F, Cole F, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner D, Kutsche K, Tartaglia M, Jentsch T
AM J HUM GENET. 2020;107(6):1062-1077.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser I, Becker J, Cremer K, Hundertmark H, Yates L, Mangold E, Peters S, Degenhardt F, Ludwig K, Zink A, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom T, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H
AM J MED GENET A. 2020;182(5):1021-1031.

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V
Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter M, Husain R, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J
NERVENARZT. 2020;91(6):518-529.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

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
Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J
J PEDIATR GENET. 2019;8(4):222-225.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan T, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy J, McCormick E, Hakonarson H, Falk M, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp C, Nibbeling E, Dingemans A, Douine E, Nelson S, , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda V, Newbury-Ecob R
GENET MED. 2019;21(4):850-860.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth K, Bierhals T, Johannsen J, Harms F, Juusola J, Johnson M, Grange D, Kutsche K
HUM GENET. 2019;138(6):625-634.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung W, Wong B, Ortega L, Bekheirnia M, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White J, Wilichowski E, Wortmann S, Casella E, Kitajima J, Kok F, Monteiro F, Muzny D, Bamshad M, Gibbs R, Sutton V, , Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver I, Glass I, Lessel D, Lyon G, Lupski J
AM J HUM GENET. 2019;105(2):302-316.

Sehstörung und Parästhesien mit seltener Ursache
Guder P, Johannsen J, Weiss D, Lischka T, Denecke J
MONATSSCHR KINDERH. 2018.

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
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J
J NEUROMUSCULAR DIS. 2018;5(2):135-143.

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen J, Hempel M, Diehl T, Haack T, Denecke J
PEDIATR NEONATOL. 2017;58(5):458-459.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Martin S, Chamberlin A, Shinde D, Hempel M, Strom T, Schreiber A, Johannsen J, Ousager L, Larsen M, Hansen L, Fatemi A, Cohen J, Lemke J, Sørensen K, Helbig K, Lessel D, Abou Jamra R
AM J HUM GENET. 2017;101(6):1013-1020.

Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern
Morgenstern L, Wagner M, Denecke J, Grolle B, Johannsen J, Wegscheider K, Wiegand-Grefe S
PRAX KINDERPSYCHOL K. 2017;66(9):687 -701.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud M, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen M, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale C, Wanders R, Pals S, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams H, Beales P, Roepman R, Dias P, Brunner H, Cobben J, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies E, de Sousa S, Lessel D, Arts H, Kuijpers T
AM J HUM GENET. 2017;100(2):281-296.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Johannsen J, Nickel M, Schulz A, Denecke J
NEUROPEDIATRICS. 2016;47(3):194-6.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

Chronische Krankheit in der Familie
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 9. Workshopkongress für Klinische Psychologie und Psychotherapie & 33. Symposium der Fachgruppe Klinische Psychologie und Psychotherapie der DGPs. .

Lebensqualität von chronisch erkrankten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 22. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke e.V. (DGM). .

Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015. 23. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung (DIGAB) e.V.. German Medical Science GMS Publishing House, .

Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
Johannsen J, Röder B
FRONT HUM NEUROSCI. 2014;8:552.

Letzte Aktualisierung aus dem FIS: 21.12.2024 - 04:11 Uhr