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.

Automated Detection of Palatal Deformations Using Deep Learning on Endoscopic Images
Schild L, Zang J, Flügel T, Weiss D, Schlaefer A, Latus S
Current Directions in Biomedical Engineering. 2024;10(1):65-68.

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.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Harms F, Weiss D, Lisfeld J, Alawi M, Kutsche K
NEUROGENETICS. 2023;24(3):171-180.

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.

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.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

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.

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):.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin M, Creighton B, Breau K, Spillmann R, Torti E, Dontu S, Tripathi S, Ajit D, Edwards R, Afriyie S, Bay J, Harper K, Beltran A, Munoz L, Falcon Rodriguez L, Stankewich M, Person R, Si Y, Normand E, Blevins A, May A, Bier L, Aggarwal V, Mancini G, van Slegtenhorst M, Cremer K, Becker J, Engels H, Aretz S, MacKenzie J, Brilstra E, van Gassen K, van Jaarsveld R, Oegema R, Parsons G, Mark P, Helbig I, McKeown S, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth H, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh J, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier R, Wang T, Eichler E, van de Laar I, McConkie-Rosell A, McDonald M, Kemppainen J, Lanpher B, Schultz-Rogers L, Gunderson L, Pichurin P, Yoon G, Zech M, Jech R, Winkelmann J, Beltran A, Zimmermann M, Temple B, Moy S, Klee E, Tan Q, Lorenzo D
NAT GENET. 2021;53(7):1006-1021.

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.

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
Weiss D, Kortüm F, Driemeyer J, Kloth K
MONATSSCHR KINDERH. 2020.

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

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 23:35 Uhr