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Andreas Dalski

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Articles 10
Citations 159
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Recent Articles
1.
Dalski A, Pauly M, Hanssen H, Hagenah J, Hellenbroich Y, Schmidt C, et al.
J Neurol . 2024 Aug; 271(9):6289-6300. PMID: 39095619
Background: Recently, an exonic GGC repeat expansion (RE) was identified by long-read genome sequencing in the ZFHX3 gen, causing spinocerebellar ataxia type 4 (SCA4), a dominant form of ataxia with...
2.
Parenti I, Mallozzi M, Huning I, Gervasini C, Kuechler A, Agolini E, et al.
Clin Genet . 2021 May; 100(2):187-200. PMID: 33955014
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with...
3.
Teresa-Rodrigo M, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, et al.
Biomed Res Int . 2016 Mar; 2016:8742939. PMID: 26925417
Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental delay, and limb malformations. The genetic causes in about 30%...
4.
Teresa-Rodrigo M, Eckhold J, Puisac B, Dalski A, Gil-Rodriguez M, Braunholz D, et al.
Int J Mol Sci . 2014 Jun; 15(6):10350-64. PMID: 24918291
Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding...
5.
Braunholz D, Hullings M, Gil-Rodriguez M, Fincher C, Mallozzi M, Loy E, et al.
Eur J Hum Genet . 2011 Sep; 20(3):271-6. PMID: 21934712
Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations...
6.
Dalski A, Mitulla B, Burk K, Schattenfroh C, Schwinger E, Zuhlke C
J Neurol . 2006 May; 253(8):1111-2. PMID: 16649092
No abstract available.
7.
Zuhlke C, Dalski A, Schwinger E, Finckh U
BMC Med Genet . 2005 Jul; 6:27. PMID: 15989694
Background: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main...
8.
Dalski A, Atici J, Kreuz F, Hellenbroich Y, Schwinger E, Zuhlke C
Eur J Hum Genet . 2004 Oct; 13(1):118-20. PMID: 15470364
The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a group of neurodegenerative disorders with overlapping as well as highly variable phenotypes. Genetically, at least 25 different loci have been...
9.
Ott V, Fasshauer M, Meier B, Dalski A, Kraus D, Gettys T, et al.
Mol Cell Endocrinol . 2004 Sep; 224(1-2):21-7. PMID: 15353177
Ciliary neurotrophic factor (CNTF), originally known for its involvement in the modulation of neuronal growth, has been discovered to exert anorexigenic effects and is currently being investigated in clinical studies...
10.
Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K
Eur J Hum Genet . 2002 Apr; 10(3):204-9. PMID: 11973625
CAG repeat expansions with loss of CAT interruptions in the coding region of the ataxin-1 gene are associated with spinocerebellar ataxia type 1 (SCA1). For molecular genetic diagnosis it is...