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Year | Number of Results |
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2020 | 3 |
2022 | 1 |
2024 | 2 |
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Page 1
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print.
Brain. 2024.
PMID: 38478578
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.
Neuhofer CM, Prokisch H.
Neuhofer CM, et al.
Int J Mol Sci. 2024 Apr 23;25(9):4602. doi: 10.3390/ijms25094602.
Int J Mol Sci. 2024.
PMID: 38731822
Free PMC article.
Review.
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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B.
Schmidt J, et al. Among authors: neuhofer cm.
Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022.
Front Cell Dev Biol. 2022.
PMID: 36467423
Free PMC article.
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LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
Neuhofer CM, et al.
Neurol Genet. 2020 Aug 4;6(5):e500. doi: 10.1212/NXG.0000000000000500. eCollection 2020 Oct.
Neurol Genet. 2020.
PMID: 32802957
Free PMC article.
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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, Li Y, Wollnik B, Burfeind P, Pauli S.
Neuhofer CM, et al.
Mol Syndromol. 2020 Feb;11(1):30-37. doi: 10.1159/000505797. Epub 2020 Feb 5.
Mol Syndromol. 2020.
PMID: 32256299
Free PMC article.
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Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.
Bergner CG, Neuhofer CM, Funke C, Biskup S, von Gottberg P, Bartels C, Koch JC, Radenbach K.
Bergner CG, et al.
Front Neurosci. 2020 Dec 22;14:559670. doi: 10.3389/fnins.2020.559670. eCollection 2020.
Front Neurosci. 2020.
PMID: 33424531
Free PMC article.
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