Publications by authors named "Martin Smitka"

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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Benedikt Becker, Isabell Cordts, Jutta Becker, Rene Günther, Matthias Baumann, Martin Smitka

J Neuromuscul Dis· September 2025

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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Martin Smitka

JAMA Pediatr· June 2024

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5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgartner, Martin Smitka

J Neurol· May 2024

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Olfactory function after mild traumatic brain injury in children-a longitudinal case control study.
Janine Gellrich, Claudia Zickmüller, Theresa Thieme, Christian Karpinski, Guido Fitze, Martin Smitka

Cereb Cortex· April 2024

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Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, Ralf A Husain, Martina Huemer

J Neuromuscul Dis· January 2024

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Martin Smitka

Brain· August 2023

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Enterovirus A71-associated acute flaccid paralysis in a pediatric patient: a case report.
Oluwafemi M Akinnurun, Marco Narvaez Encalada, Julia Orth, Markus Petzold, Sindy Böttcher, Martin Smitka

J Med Case Rep· July 2023

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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Sabine Stein, Martin Smitka

Brain· February 2023

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Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Martin Smitka

J Neuromuscul Dis· January 2023

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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.
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Martin Smitka

Orphanet J Rare Dis· October 2022

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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Johanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, Martin Smitka, Sabine Borrel

Neuropediatrics· February 2022

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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.
Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, Jessika Johannsen, Heiko Brennenstuhl, Martin Smitka

Lancet Child Adolesc Health· January 2022

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Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.
Elisa Nitz, Martin Smitka, Jens Schallner, Katja Akgün, Tjalf Ziemssen

Ann Clin Transl Neurol· October 2021

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Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv-cPACNS): An International Survey.
Paul Keenan, Jürgen Brunner, Angela S Quan, Martin Smitka, Gabriele Hahn

Front Pediatr· October 2021

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Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?
André Heinen, Anja Schnabel, Normi Brück, Martin Smitka, Christine Wolf

Rheumatology (Oxford)· April 2021

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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.
Angela S Quan, Jürgen Brunner, Benjamin Rose, Martin Smitka, Gabriele Hahn

Front Pediatr· March 2021

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Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
Astrid Pechmann, Matthias Baumann, Günther Bernert, Marina Flotats-Bastardas, Ursula Gruber-Sedlmayr, Martin Smitka

J Neuromuscul Dis· October 2020

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Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS).
Martin Smitka, Normi Bruck, Kay Engellandt, Gabriele Hahn, Ralf Knoefler

Front Pediatr· July 2020

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Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
Maja von der Hagen, Lena-Luise Becker, Thomas F Wienker, Martin Smitka, Luciana Musante

Neuropediatrics· February 2020

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The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Laila Arash-Kaps, Katalin Komlosi, Marlene Seegräber, Stefan Diederich, Eduard Paschke, Martin Smitka

J Pediatr· December 2019

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Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Svenja Alter, Alrun Hotz, Arne Jahn, Nataliya Di Donato, Evelin Schröck, Martin Smitka

Am J Med Genet A· December 2018

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Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.
Janine Lenk, Joseph Porrmann, Martin Smitka, Ines Eger, Evelin Schröck

Ophthalmic Genet· October 2018

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Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
Lisa Schmelzer, Martin Smitka, Christine Wolf, Nadja Lucas, Victoria Tüngler

Eur J Paediatr Neurol· January 2018

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Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature.
Sonja Walsh, Ralf Knöfler, Gabriele Hahn, Judith Lohse, Reinhard Berner, Martin Smitka

Clin Exp Rheumatol· July 2017

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Martin Smitka

PLoS Genet· March 2017

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