Michael Freilinger
Overview
Explore the profile of Michael Freilinger including associated specialties, affiliations and a list of published articles.
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Articles
32
Citations
445
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Recent Articles
1.
Amato M, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, et al.
Eur J Paediatr Neurol
. 2024 Jul;
52:10-19.
PMID: 38970889
Aim: This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age,...
2.
Zhang D, Lang S, Wilken B, Einspieler C, Neul J, Bolte S, et al.
Res Dev Disabil
. 2023 Apr;
138:104515.
PMID: 37104989
Background: Infants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous...
3.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, et al.
J Neurol
. 2022 Oct;
270(2):909-916.
PMID: 36308527
Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and...
4.
Wendel E, Thonke H, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, et al.
Neurol Neuroimmunol Neuroinflamm
. 2022 Oct;
9(6).
PMID: 36229191
Background And Objective: The spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis and relapsing...
5.
Schoggl J, Siegert S, Boltshauser E, Freilinger M, Schmidt W
Mov Disord
. 2022 May;
37(8):1774-1776.
PMID: 35560436
No abstract available.
6.
Steininger J, Rossmanith R, Geier C, Leiss-Piller A, Thonhauser L, Weiss S, et al.
Front Immunol
. 2022 Jan;
12:747738.
PMID: 34987501
X-linked lymphoproliferative disease (XLP1) is a combined immunodeficiency characterized by severe immune dysregulation caused by mutations in the gene. Loss or dysfunction of SH2D1A is associated with the inability in...
7.
Serpieri V, DAbrusco F, Dempsey J, Cheng Y, Arrigoni F, Baker J, et al.
J Med Genet
. 2021 Oct;
59(9):888-894.
PMID: 34675124
Background: Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem...
8.
Raimann A, Haberler C, Patsch J, Ertl D, Sadeghi K, Freilinger M, et al.
Horm Res Paediatr
. 2021 Oct;
94(9-10):390-398.
PMID: 34673643
Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations in the biomineralization-associated alkaline phosphatase gene, encoding tissue-nonspecific alkaline phosphatase (TNSALP). Symptoms include skeletal hypomineralization and extra-skeletal manifestations...
9.
Siegert S, Schmidt W, Pletschko T, Bittner R, Gobara S, Freilinger M
Neuropediatrics
. 2021 Jan;
52(5):377-382.
PMID: 33511595
Background: Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel gene variant...
10.
De Simoni D, Ricken G, Winklehner M, Koneczny I, Karenfort M, Hustedt U, et al.
Neurol Neuroimmunol Neuroinflamm
. 2020 Jun;
7(4).
PMID: 32487720
No abstract available.