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

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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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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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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, [...] SMArtCARE study group
J Neurol, 271(5):2787-2797, 27 Feb 2024
Cited by: 0 articles | PMID: 38409538 | PMCID: PMC11055798
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Olfactory function after mild traumatic brain injury in children-a longitudinal case control study.
Gellrich J, Zickmüller C, Thieme T, Karpinski C, Fitze G, Smitka M, von der Hagen M, Schriever VA
Cereb Cortex, 34(4):bhae162, 01 Apr 2024
Cited by: 0 articles | PMID: 38629798
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Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C, Smitka M, Muschol N, Husain RA, Huemer M, Hennermann JB, Schuler R, Hahn A
J Neuromuscul Dis, 11(1):167-177, 01 Jan 2024
Cited by: 1 article | PMID: 38043017 | PMCID: PMC10789365
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, [...] Maroofian R
Brain, 146(8):3273-3288, 01 Aug 2023
Cited by: 2 articles | PMID: 36757831 | PMCID: PMC10393417
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Enterovirus A71-associated acute flaccid paralysis in a pediatric patient: a case report.
Akinnurun OM, Narvaez Encalada M, Orth J, Petzold M, Böttcher S, Diedrich S, Smitka M, Schröttner P
J Med Case Rep, 17(1):310, 19 Jul 2023
Cited by: 0 articles | PMID: 37464446 | PMCID: PMC10354974
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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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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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Influence of uterine manipulator use on the incidence of lymphovascular propagation in the treatment of endometrial cancer.
Hudec B, Dókuš K, Urdzík P, Školka R, Koňarčíková T, Smitka M
Minim Invasive Ther Allied Technol, 32(1):12-17, 21 Dec 2022
Cited by: 0 articles | PMID: 36542513
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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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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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Effect of a uterine manipulator on the incidence of lymphovascular propagation (LVSI) in treatment of endometrial cancer
Dókuš K, Hudec B, Urdzík P, Školka R, Koňarčíková T, Smitka M
Research Square, 25 Apr 2022
Cited by: 0 articles | PPR: PPR485702
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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP, European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health, 6(1):28-37, 22 Nov 2021
Cited by: 24 articles | PMID: 34822769
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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 LL, 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, Weiss K, [...] Kaindl AM
Lancet Child Adolesc Health, 6(1):17-27, 29 Oct 2021
Cited by: 46 articles | PMID: 34756190
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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A
Neuropediatrics, 53(1):39-45, 01 Dec 2021
Cited by: 3 articles | PMID: 34852371
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Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv-cPACNS): An International Survey.
Keenan P, Brunner J, Quan AS, Smitka M, Hahn G, Pain CE, Häfner R, Speth F, Gerstl L, Hedrich CM
Front Pediatr, 9:756612, 12 Oct 2021
Cited by: 7 articles | PMID: 34712632 | PMCID: PMC8546335
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Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.
Nitz E, Smitka M, Schallner J, Akgün K, Ziemssen T, von der Hagen M, Tüngler V
Ann Clin Transl Neurol, 8(10):2013-2024, 04 Sep 2021
Cited by: 26 articles | PMID: 34482646 | PMCID: PMC8528467
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Liver injury associated with the use of selective androgen receptor modulators and post-cycle therapy: Two case reports and literature review.
Koller T, Vrbova P, Meciarova I, Molcan P, Smitka M, Adamcova Selcanova S, Skladany L
World J Clin Cases, 9(16):4062-4071, 01 Jun 2021
Cited by: 14 articles | PMID: 34141767 | PMCID: PMC8180234
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Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?
Heinen A, Schnabel A, Brück N, Smitka M, Wolf C, Lucas N, Dollinger S, Hahn G, Günther C, Berner R, Lee-Kirsch MA, Schuetz C
Rheumatology (Oxford), 60(4):e136-e138, 01 Apr 2021
Cited by: 9 articles | PMID: 33200187
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Diagnosis and Treatment of Angiography Positive Medium to Large Vessel Childhood Primary Angiitis of Central Nervous System (p-cPACNS): An International Survey.
Quan AS, Brunner J, Rose B, Smitka M, Hahn G, Pain CE, Häfner R, Speth F, Gerstl L, Hedrich CM
Front Pediatr, 9:654537, 26 Mar 2021
Cited by: 8 articles | PMID: 33842414 | PMCID: PMC8032958
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Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS).
Smitka M, Bruck N, Engellandt K, Hahn G, Knoefler R, von der Hagen M
Front Pediatr, 8:281, 03 Jul 2020
Cited by: 14 articles | PMID: 32719754 | PMCID: PMC7349935
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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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HPV 16 in Pathogenesis of Upper Aerodigestive Tract Tumors.
Uhliarová B, Smitka M
Klin Onkol, 33(2):132-137, 01 Jan 2020
Cited by: 0 articles | PMID: 32303133
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The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB
J Pediatr, 215:152-157.e3, 01 Dec 2019
Cited by: 13 articles | PMID: 31761138
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