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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 LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, [...] SMArtCARE and Swiss-Reg-NMD study group
Lancet Reg Health Eur, 47:101092, 07 Oct 2024
Cited by: 1 article | PMID: 39434961 | PMCID: PMC11492610
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A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ
Neurol Genet, 10(5):e200186, 06 Sep 2024
Cited by: 0 articles | PMID: 39246741 | PMCID: PMC11380501
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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 RA, Baumann M, [...] SMARTCARE study group
JAMA Pediatr, 178(6):540-547, 01 Jun 2024
Cited by: 4 articles | PMID: 38587854
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Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G, North Star Consortium, Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, [...] Fischer D
Lancet Neurol, 22(10):890-899, 01 Oct 2023
Cited by: 2 articles | PMID: 37739572
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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Pluta N, von Moers A, Pechmann A, Stenzel W, Goebel HH, Atlan D, Wolf B, Nanda I, Zaum AK, Rost S
Int J Mol Sci, 24(17):13567, 01 Sep 2023
Cited by: 1 article | PMID: 37686372 | PMCID: PMC10488134
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Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.
Kleefeld F, Hentschel A, von Moers A, Hahn K, Horvath R, Goebel HH, Preusse C, Schallner J, Schuelke M, Roos A, Stenzel W
Neuropathol Appl Neurobiol, 49(4):e12920, 01 Aug 2023
Cited by: 1 article | PMID: 37328427
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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, [...] Vill K
J Neuromuscul Dis, 10(1):55-65, 01 Jan 2023
Cited by: 14 articles | PMID: 36463459 | PMCID: PMC9881029
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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 MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, [...] SMArtCARE study group
Brain, 146(2):668-677, 01 Feb 2023
Cited by: 17 articles | PMID: 35857854
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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, [...] Abicht A
J Neuromuscul Dis, 10(5):835-846, 01 Jan 2023
Cited by: 3 articles | PMID: 37424474 | PMCID: PMC10578226
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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 MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, [...] SMArtCARE Study Group
J Neuromuscul Dis, 10(1):29-40, 01 Jan 2023
Cited by: 6 articles | PMID: 36565133 | PMCID: PMC9881023
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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 MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, [...] SMArtCARE study group
Orphanet J Rare Dis, 17(1):384, 23 Oct 2022
Cited by: 11 articles | PMID: 36274155 | PMCID: PMC9589836
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Corrigendum: Specifically increased rate of infections in children post measles in a high resource setting.
Bühl D, Staudacher O, Santibanez S, Rossi R, Girschick H, Stephan V, Schmidt B, Hundsdoerfer P, von Moers A, Lange M, Barker M, Mall MA, Heininger U, Matysiak-Klose D, Mankertz A, von Bernuth H
Front Pediatr, 10:1005990, 08 Sep 2022
Cited by: 0 articles | PMID: 36160808 | PMCID: PMC9493371
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Specifically Increased Rate of Infections in Children Post Measles in a High Resource Setting.
Bühl D, Staudacher O, Santibanez S, Rossi R, Girschick H, Stephan V, Schmidt B, Hundsdoerfer P, von Moers A, Lange M, Barker M, Mall MA, Heininger U, Matysiak-Klose D, Mankertz A, von Bernuth H
Front Pediatr, 10:896086, 09 Jun 2022
Cited by: 1 article | PMID: 35813375 | PMCID: PMC9261986
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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R, SMArtCARE consortium, Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A
Eur J Neurol, 29(7):2084-2096, 04 May 2022
Cited by: 14 articles | PMID: 35318785
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Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study.
Schmidt H, Felisatti A, von Aster M, Wilbert J, von Moers A, Fischer MH
Front Psychol, 12:697881, 06 Sep 2021
Cited by: 1 article | PMID: 34552528 | PMCID: PMC8450493
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Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.
Kölbel H, Preuße C, Brand L, von Moers A, Della Marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W
Neuropathol Appl Neurobiol, 47(6):856-866, 28 May 2021
Cited by: 6 articles | PMID: 33973272
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[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].
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 MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J
Nervenarzt, 91(6):518-529, 01 Jun 2020
Cited by: 9 articles | PMID: 32394004
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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, [...] Kirschner J
J Neuromuscul Dis, 7(1):41-46, 01 Jan 2020
Cited by: 7 articles | PMID: 31744015
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"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini A, Quinlivan R, Sansone VA, Meijer I, Schrijvers G, Tibben A, Padberg G, de Wit M, Sterrenburg E, Mejat A, Breukel A, Rataj M, Lochmüller H, Willmann R, 235th ENMC workshop study group
Orphanet J Rare Dis, 14(1):126, 07 Jun 2019
Cited by: 9 articles | PMID: 31174585 | PMCID: PMC6555994
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Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.
Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W
Neuromuscul Disord, 29(7):487-496, 10 May 2019
Cited by: 10 articles | PMID: 31326192
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A comparison study of anxiety in children undergoing brain MRI vs adults undergoing brain MRI vs children undergoing an electroencephalogram.
Jaite C, Kappel V, Napp A, Sommer M, Diederichs G, Weschke B, Spors B, von Moers A, Lehmkuhl U, Bachmann CJ
PLoS One, 14(3):e0211552, 07 Mar 2019
Cited by: 6 articles | PMID: 30845163 | PMCID: PMC6405132
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[Transition from neuropediatrics to neurology in neuromuscular diseases].
Schara U, Fink GR, von Moers A
Nervenarzt, 89(10):1123-1130, 01 Oct 2018
Cited by: 4 articles | PMID: 30120487
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HaNDL Syndrome with Fever in a 12-Year-Old Boy - A Case Report.
Berthold O, Theophil M, von Moers A
Headache, 58(4):597-598, 05 Feb 2018
Cited by: 2 articles | PMID: 29399803
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The Curse of Apneic Spells.
Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH
Semin Pediatr Neurol, 26:56-58, 13 Apr 2017
Cited by: 2 articles | PMID: 29961520
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Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.
Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W
Acta Neuropathol Commun, 4(1):45, 27 Apr 2016
Cited by: 33 articles | PMID: 27121733 | PMCID: PMC4847347
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1-25 of 74 results

1 2 3

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

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.

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

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

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.

Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

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

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

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

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Corrigendum: Specifically increased rate of infections in children post measles in a high resource setting.

Specifically Increased Rate of Infections in Children Post Measles in a High Resource Setting.

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.

Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study.

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.

A comparison study of anxiety in children undergoing brain MRI vs adults undergoing brain MRI vs children undergoing an electroencephalogram.

[Transition from neuropediatrics to neurology in neuromuscular diseases].

HaNDL Syndrome with Fever in a 12-Year-Old Boy - A Case Report.

The Curse of Apneic Spells.

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.

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