Ivan Karin
Overview
Explore the profile of Ivan Karin including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
231
Followers
0
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Recent Articles
1.
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
Smeitink J, van Es J, Bosman B, Janssen M, Klopstock T, Gorman G, et al.
Brain
. 2024 Nov;
148(3):896-907.
PMID: 39501914
Mitochondrial disease incorporates a group of rare conditions with no approved treatment to date, except for Leber hereditary optic neuropathy. Therapeutic options to alleviate the symptoms of mitochondrial disease are...
2.
Iankova V, Sparber P, Rohani M, Dusek P, Buchner B, Karin I, et al.
Brain
. 2023 Oct;
147(4):1389-1398.
PMID: 37831662
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of neurodegeneration with brain iron accumulation (NBIA) disorders. Here we report cross-sectional and longitudinal data to define...
3.
Buchholz M, Weber N, Borel S, Sayah S, Xie F, Schulz J, et al.
BMJ Open
. 2023 Aug;
13(8):e075736.
PMID: 37527887
Introduction: Friedreich ataxia (FA) is the most common hereditary ataxia in Europe, characterised by progressively worsening movement and speech impairments with a typical onset before the age of 25 years....
4.
Cordts I, Onder D, Traschutz A, Kobeleva X, Karin I, Minnerop M, et al.
Mov Disord
. 2022 Jun;
37(8):1707-1718.
PMID: 35699229
Background: Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest...
5.
Iankova V, Karin I, Klopstock T, Schneider S
Front Neurol
. 2021 May;
12:629414.
PMID: 33935938
Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of progressive neurodegenerative diseases characterized by iron deposition in the globus pallidus and the substantia nigra. As of today, 15...
6.
Karin I, Buchner B, Gauzy F, Klucken A, Klopstock T
Front Neurol
. 2021 Mar;
12:642228.
PMID: 33692746
In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry...
7.
Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, et al.
Lancet Neurol
. 2019 Jun;
18(7):631-642.
PMID: 31202468
Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalised dystonia and brain iron accumulation. We assessed whether the iron chelator deferiprone can reduce brain iron...
8.
Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, et al.
Neuromuscul Disord
. 2017 Oct;
27(12):e1.
PMID: 29074295
No abstract available.
9.
Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, et al.
Neuromuscul Disord
. 2017 Jul;
27(9):856-860.
PMID: 28666572
Telethoninopathy is one of the rarest forms of Limb-girdle muscular dystrophy (LGMD). So far, only a small number of LGMD type 2 G (LGMD2G) patients have been described, mostly patients...
10.
Karin I, Borggraefe I, Catarino C, Kuhm C, Hoertnagel K, Biskup S, et al.
J Neurol
. 2017 Jan;
264(3):578-582.
PMID: 28054128
No abstract available.