Annette Hackenberg
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Explore the profile of Annette Hackenberg including associated specialties, affiliations and a list of published articles.
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40
Citations
626
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Recent Articles
1.
Groeneweg S, van Geest F, Martin M, Dias M, Frazer J, Medina-Gomez C, et al.
Nat Commun
. 2025 Mar;
16(1):2479.
PMID: 40075072
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked...
2.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain
. 2025 Feb;
PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
3.
Kaufman C, DAndrea A, Hackenberg A, Poms M, Braissant O, Haberle J
Mol Cell Pediatr
. 2025 Jan;
12(1):1.
PMID: 39838169
Background: Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or...
4.
Greiter B, Sidorov S, Osuna E, Seiler M, Relly C, Hackenberg A, et al.
Lancet Reg Health Eur
. 2024 Dec;
48:101143.
PMID: 39736882
Background: Lyme disease (LD) is caused by and is the most common tickborne disease in the northern hemisphere. Although classical characteristics of LD are well-known, the diagnosis and treatment are...
5.
Slavova N, Muenger R, Sanchez-Albisua I, Regenyi M, Oesch G, Fluss J, et al.
Stroke
. 2024 Mar;
55(4):1006-1014.
PMID: 38445467
Background: Inflammatory type focal cerebral arteriopathy (FCA-i) in the anterior circulation (AC) is well characterized, and the focal cerebral arteriopathy severity score (FCASS) reflects the severity of the disease. We...
6.
Gericke F, Hanson J, Hackenberg A, Gerth-Kahlert C
Eur J Paediatr Neurol
. 2024 Jan;
48:113-120.
PMID: 38217965
Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) comprises various age-dependent clinical phenotypes and may be monophasic, multiphasic, or chronic. Optic neuritis (ON) is a common manifestation and frequently appears in...
7.
Ji H, Payette K, Speckert A, Tuura R, Grehten P, Kottke R, et al.
Cereb Cortex
. 2023 Nov;
34(1).
PMID: 37991274
Spina bifida affects spinal cord and cerebral development, leading to motor and cognitive delay. We investigated whether there are associations between thalamocortical connectivity topography, neurological function, and developmental outcomes in...
8.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki M, Ferla M, et al.
Brain
. 2023 Jul;
146(12):5031-5043.
PMID: 37517035
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental...
9.
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...
10.
Pfiffner F, Koller S, Menetrey A, Graf U, Bahr L, Maspoli A, et al.
Int J Mol Sci
. 2022 Jul;
23(13).
PMID: 35806387
Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the...