P E Taschner
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Explore the profile of P E Taschner including associated specialties, affiliations and a list of published articles.
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43
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1397
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Recent Articles
1.
Baysal B, Rubinstein W, Taschner P
J Mol Med (Berl)
. 2001 Nov;
79(9):495-503.
PMID: 11692162
This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II subunits cause two strikingly different group...
2.
Mole S, Zhong N, Sarpong A, LOGAN W, Hofmann S, Yi W, et al.
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:7-10.
PMID: 11589012
Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and...
3.
de Voer G, Jansen G, van Ommen G, Peters D, Taschner P
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:115-20.
PMID: 11588981
Neuronal ceroid lipofuscinoses (NCLs) are the most common hereditary neurodegenerative disorders of childhood. The first symptom of this heterogeneous group of devastating lysosomal storage diseases is progressive visual failure. The...
4.
van Diggelen O, Thobois S, Tilikete C, Zabot M, Keulemans J, van Bunderen P, et al.
Ann Neurol
. 2001 Aug;
50(2):269-72.
PMID: 11506414
The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical...
5.
Taschner P, Jansen J, Baysal B, Bosch A, Rosenberg E, Brocker-Vriends A, et al.
Genes Chromosomes Cancer
. 2001 Jun;
31(3):274-81.
PMID: 11391798
Hereditary paragangliomas or glomus tumors are usually benign slow-growing tumors in the head and neck region. The inheritance pattern of hereditary paraganglioma is autosomal dominant with imprinting. Recently, we have...
6.
Badenhop R, Cherian S, Lord R, Baysal B, Taschner P, Schofield P
Genes Chromosomes Cancer
. 2001 Jun;
31(3):255-63.
PMID: 11391796
Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal...
7.
Baysal B, Willett-Brozick J, Taschner P, Dauwerse J, Devilee P, Devlin B
Eur J Hum Genet
. 2001 Apr;
9(2):121-9.
PMID: 11313745
Chromosomal region 11q22-q23 is a frequent target for deletion during the development of many solid tumour types, including breast, ovary, cervix, stomach, bladder carcinomas and melanoma. One of the most...
8.
Kleijer W, van Diggelen O, Keulemans J, Losekoot M, Garritsen V, Stroink H, et al.
Prenat Diagn
. 2001 Mar;
21(2):99-101.
PMID: 11241534
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP-I) encoded by the CLN2 gene. We report the first case...
9.
Baysal B, Ferrell R, Willett-Brozick J, Lawrence E, Myssiorek D, Bosch A, et al.
Science
. 2000 Feb;
287(5454):848-51.
PMID: 10657297
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ...
10.
Mitchison H, Bernard D, Greene N, Cooper J, Junaid M, Pullarkat R, et al.
Neurobiol Dis
. 1999 Oct;
6(5):321-34.
PMID: 10527801
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease. To facilitate studies...