Overview of Neuro-Ophthalmic Findings in Leukodystrophies
Bettinger C, Dulz S, Atiskova Y, Guerreiro H, Schön G, Guder P, Maier S, Denecke J, Bley A
J CLIN MED. 2024;13(17):.

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.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon M, van Jaarsveld R, Oegema R, van Gassen K, Holwerda S, Barakat T, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi M, Striano P, Iacomino M, Chae J, Jang S, Kim S, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini E, Radio F, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad N, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S
AM J HUM GENET. 2024;111(6):1206-1221.

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.

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.

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.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer L, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga A, Pohl S, Muschol N
J CLIN MED. 2023;12(12):.

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.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Hecher L, Harms F, Lisfeld J, Alawi M, Denecke J, Kutsche K
NEUROGENETICS. 2023;24(2):79-93.

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.

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Khazaei S, Chen C, Andrade A, Kabir N, Azarafshar P, Morcos S, França J, Lopes M, Lund P, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong C, Bryant L, Hébert S, Tong B, Sihota T, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada E, Jerome-Majewska L, Ellezam B, Gomes C, Denecke J, Lessel D, McDonald M, Pizoli C, Taylor K, Cocanougher B, Bhoj E, Gingras A, Garcia B, Lu C, Campos E, Kleinman C, Garzia L, Jabado N
CELL. 2023;186(6):1162-1178.e20.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
Mah-Som A, Daw J, Huynh D, Wu M, Creekmore B, Burns W, Skinner S, Holla Ø, Smeland M, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah M, Sczakiel H, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth C, Pena L, Ramsey K, Narayanan V, Seaver L, Rodriguez D, Afenjar A, Burglen L, Lee E, Chou T, Weihl C, Shinawi M
AM J HUM GENET. 2023;110(11):1959-1975.

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):.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
Thalwitzer K, Driedger J, Xian J, Saffari A, Zacher P, Bölsterli B, McKeown Ruggiero S, Sullivan K, Datta A, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman H, Debus O, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump J, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade S, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke J, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann G, Ries M, Helbig I, Syrbe S
NEUROLOGY. 2023;101(9):e879-e891.

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.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves C, Sherbini O, D'Arco F, Steel D, Kurian M, Radio F, Ferrero G, Carli D, Tartaglia M, Balci T, Powell-Hamilton N, Schrier Vergano S, Reutter H, Hoefele J, Günthner R, Roeder E, Littlejohn R, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino C, Mercimek-Andrews S, Denecke J, Lyons M, Klopstock T, Bhoj E, Bryant L, Vanderver A
AM J NEURORADIOL. 2022;43(7):1048-1053.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp H, Wagner M, Weigand H, McConkie-Rossell A, McDonald M, Keren B, Mignot C, Gauthier J, Soucy J, Michaud J, Dumas M, Smith R, Löbel U, Hempel M, Kubisch C, Denecke J, Campeau P, Bain J, Lessel D
HUM GENET. 2022;141(2):257-272.

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
Schorling D, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R, Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A
EUR J NEUROL. 2022;29(7):2084-2096.

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.

Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET
Wiegand-Grefe S, Denecke J
MONATSSCHR KINDERH. 2022;170:44 - 51.

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.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer L, Pohl S, Breyer S, Aries C, Denecke J, Perez A, Petzoldt M, Schrum J, Müller I, Muschol N
MOL GENET METAB REP. 2021;26:.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler F
ORPHANET J RARE DIS. 2021;16(1):227.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha K, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini G, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, , Kleefstra T, Stuurman K, Wilke M, Thompson M, Bebin E, Bijlsma E, Hoffer M, Peeters-Scholte C, Slavotinek A, Weiss W, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo J, Klöckner C, Kamphausen S, Abou Jamra R, Arelin M, Innes A, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki M, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday B, Robertson S, Lyonnet S, Amiel J, Gordon C
AM J HUM GENET. 2021;108(6):1138-1150.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
El Ghaleb Y, Schneeberger P, Fernández-Quintero M, Geisler S, Pelizzari S, Polstra A, van Hagen J, Denecke J, Campiglio M, Liedl K, Stevens C, Person R, Rentas S, Marsh E, Conlin L, Tuluc P, Kutsche K, Flucher B
BRAIN. 2021;144(7):2092-2106.

Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!
Fröschle G, Ebenebe C, Herrmann J, Denecke J, Singer D, Dabek M
Z GEBURTSH NEONATOL. 2021;225(5):445-446.

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.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth K, Lozic B, Tagoe J, Hoffer M, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au P, Denecke J, Bijlsma E, Lessel D
NEUROGENETICS. 2021;22(4):263-269.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp K, Jenkins D, Sullivan R, Harms F, von Elsner L, Ockeloen C, de Munnik S, Bongers E, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell L
EUR J HUM GENET. 2021;29(7):1110-1120.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke P, Berland S, Bierhals T, Bilan F, Bindoff L, Braathen G, Busk Ø, Chenbhanich J, Denecke J, Escobar L, Estes C, Fleischer J, Groepper D, Haaxma C, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad U, Brenman L, Martinez-Agosto J, Might M, Miller D, Minks K, Moghaddam B, Nava C, Nelson S, Parant J, Prescott T, Rajabi F, Randrianaivo H, Reiter S, Schuurs-Hoeijmakers J, Shieh P, Slavotinek A, Smithson S, Stegmann A, Tomczak K, Tveten K, Wang J, Whitlock J, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo N, Kreienkamp H, Lessel D
GENOME MED. 2021;13(1):90.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots D, Chater-Diehl E, Dingemans A, Goodman S, Siu M, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries B, Deden A, Leenders E, Kwint M, Stumpel C, Stevens S, Vermeulen J, van Harssel J, Bosch D, van Gassen K, van Binsbergen E, de Geus C, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen I, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager L, Larsen M, Schultz-Rogers L, Morava E, Klee E, Berry I, Campbell J, Lindstrom K, Pruniski B, Neumeyer A, Radley J, Phornphutkul C, Schmidt B, Wilson W, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk M, Cohn R, Kannu P, Alkhunaizi E, Chitayat D, Scherer S, Brunner H, Vissers L, Kleefstra T, Koolen D, Weksberg R
AM J HUM GENET. 2021;108(6):1053-1068.

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.

Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
Schwering C, Kammler G, Wibbeler E, Christner M, Knobloch J, Nickel M, Denecke J, Baehr M, Schulz A
J CHILD NEUROL. 2021;36(8):635-641.

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.

Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation
Boettcher J, Denecke J, Barkmann C, Wiegand-Grefe S
INT J ENV RES PUB HE. 2020;17(23):.

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
Boettcher J, Filter B, Denecke J, Hot A, Daubmann A, Zapf A, Wegscheider K, Zeidler J, von der Schulenburg J, Bullinger M, Rassenhofer M, Schulte-Markwort M, Wiegand-Grefe S
BMC PRIM CARE. 2020;21(1):.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant L, Cox S, Marchione D, Joiner E, Wilson K, Janssen K, Lee P, March M, Nair D, Sherr E, Fregeau B, Wierenga K, Wadley A, Mancini G, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford H, Powis Z, Cho M, Willing M, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino C, Retterer K, Schuette J, Innis J, Pizzino A, Lüttgen S, Denecke J, Strom T, Monaghan K, Yuan Z, Dubbs H, Bend R, Lee J, Lyons M, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig K, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik M, Õunap K, Ilves P, Innes A, Kernohan K, Costain G, Meyn M, Chitayat D, Zackai E, Lehman A, Kitson H, Martin M, Martinez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Brimble E, Ferrero G, Radio F, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas J, Umana L, Weiss M, Gotway G, Stuurman K, Thompson M, McWalter K, Stumpel C, Stevens S, Stegmann A, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund L, Larsen M, Byler M, Lebel R, Hurst A, Dean J, Schrier Vergano S, Norman J, Mercimek-Andrews S, Neira J, Van Allen M, Longo N, Sellars E, Louie R, Cathey S, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump J, Chung W, Garcia B, Hakonarson H, Bhoj E
SCI ADV. 2020;6(49):.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas T, Li D, Nair D, Alaimo J, Alders M, Altmüller J, Barakat T, Bebin E, Bertsch N, Blackburn P, Blesson A, Bouman A, Brockmann K, Brunelle P, Burmeister M, Cooper G, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik L, Gunderson L, Hasadsri L, Jain M, Karimov C, Keena B, Klee E, Kloth K, Lace B, Macchiaiolo M, Marcadier J, Milunsky J, Napier M, Ortiz-Gonzalez X, Pichurin P, Pinner J, Powis Z, Prasad C, Radio F, Rasmussen K, Renaud D, Rush E, Saunders C, Selcen D, Seman A, Shinde D, Smith E, Smol T, Snijders Blok L, Stoler J, Tang S, Tartaglia M, Thompson M, van de Kamp J, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai E, Zampino G, Campeau P, Bhoj E
EUR J HUM GENET. 2020;28(10):1422-1431.

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.

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.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak C, Doherty D, Lin A, Vegas N, Cho M, Viot G, Dimartino C, Weisfeld-Adams J, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate Y, Ehmke N, Horn D, Troyer C, Kant S, Lee Y, Ishak G, Leung G, Barone Pritchard A, Yang S, Bend E, Filippini F, Roadhouse C, Lebrun N, Mehaffey M, Martin P, Apple B, Millan F, Puk O, Hoffer M, Henderson L, McGowan R, Wentzensen I, Pei S, Zahir F, Yu M, Gibson W, Seman A, Steeves M, Murrell J, Luettgen S, Francisco E, Strom T, Amlie-Wolf L, Kaindl A, Wilson W, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers L, Radtke K, Chelly J, Zackai E, Friedman J, Bamshad M, Nickerson D, , Reid R, Devriendt K, Chae J, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan T, Orenstein N, Dobyns W, Shieh J, Choi M, Waggoner D, Gripp K, Parker M, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman T, Amiel J, Chung B, Gordon C
BRAIN. 2020;143(1):55-68.

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.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice G, Park S, Gavazzi F, Adang L, Ayuk L, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley A, Blumkin L, Boespflug-Tanguy O, Briggs T, Brimble E, Dale R, Darin N, Debray F, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly D, Lev D, Levrat V, Livingston J, Marti I, Mignot C, Mochel F, Nougues M, Oppermann I, Pérez-Dueñas B, Popp B, Rodero M, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson C, Zerem A, Zweier C, Zuberi S, Orcesi S, Vanderver A, Hur S, Crow Y
HUM MUTAT. 2020;41(4):837-849.

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.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter A, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann K, Hoffmann G, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze M, Moore S, Seta N, Ziegler A, Thiel C
HUM MUTAT. 2019;40(7):938-951.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Johannesen K, Mitter D, Janowski R, Roth C, Toulouse J, Poulat A, Ville D, Chatron N, Brilstra E, Geleijns K, Born A, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig K, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke J, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller R
NEUROL-GENET. 2019;5(6):e373.

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.

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.

Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf S, Berghoff S, Trevisiol A, Spieth L, Düking T, Schneider L, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave K, Saher G
ACTA NEUROPATHOL. 2019;138(4):673-674.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf S, Berghoff S, Trevisiol A, Spieth L, Düking T, Schneider L, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave K, Saher G
ACTA NEUROPATHOL. 2019;138(1):147-161.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia
Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K
J NEUROL SCI. 2019;396:199-201.

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

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

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.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel D, Gehbauer C, Bramswig N, Schluth-Bolard C, Venkataramanappa S, van Gassen K, Hempel M, Haack T, Baresic A, Genetti C, Funari M, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H, Lerario A, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto M, Gauthier J, Hamdan F, Laberge A, Campeau P, Louie R, Cathey S, Prinz I, Jorge A, Terhal P, Lenhard B, Wieczorek D, Strom T, Agrawal P, Britsch S, Tolosa E, Kubisch C
BRAIN. 2018;141(8):2299-2311.

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.

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery M, Coban-Akdemir Z, Harel T, Rosenfeld J, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani S, Schaaf C, Wangler M, Bacino C, Lewis R, Potocki L, Graham B, Belmont J, Scaglia F, Orange J, Jhangiani S, Chiang T, Doddapaneni H, Hu J, Muzny D, Xia F, Beaudet A, Boerwinkle E, Eng C, Plon S, Sutton V, Gibbs R, Posey J, Yang Y, Lupski J
GENOME MED. 2017;9(1):26.

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 Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel D, Schob C, Küry S, Reinders M, Harel T, Eldomery M, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann A, Gerkes E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom T, Rosenfeld J, Yang Y, Posey J, Immken L, Oundjian N, Helbig K, Meeks N, Zegar K, Morton J, , Schieving J, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner H, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski J, Kreienkamp H
AM J HUM GENET. 2017;101(5):716-724.

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.

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler M, Püschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M
BONE. 2017;103:136-143.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
Said E, Chong J, Hempel M, Denecke J, Soler P, Strom T, Nickerson D, Kubisch C, Bamshad M, Lessel D
AM J MED GENET A. 2017;173(11):3098-3103.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H, Hoffmann G, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke G, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek N, Møller R, Koeleman B, Matsumoto N, Dobyns W, Battaglia D, Lemke J, Kutsche K, Guerrini R
BRAIN. 2017;140(9):2322-2336.

Management Strategies for CLN2 Disease
Williams R, Adams H, Blohm M, Cohen-Pfeffer J, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson J, Lehwald L, Leung M, Mikhaylova S, Mink J, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A
PEDIATR NEUROL. 2017;69:102-112.

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.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

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, .

Brainstem disconnection: two additional patients and expansion of the phenotype
Poretti A, Denecke J, Miller D, Schiffmann H, Buhk J, Grange D, Doherty D, Boltshauser E
NEUROPEDIATRICS. 2015;46(2):139-44.

Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter A, Schulz A, Denecke J
J Pediatr Epilepsy. 2014;3:199-206.

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique
Denecke J
2013. Haemostasis. 1. Aufl. Springer, 383-386.

Letzte Aktualisierung aus dem FIS: 29.11.2024 - 23:32 Uhr