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  Abstracts by author  
  January, 02 2023

virtual library in human genetics and molecular biology

  
 
A. Danek and T. Meitinger Geniospasm: a type of essential tremor?
 
A. Danek, J. Wendeborn and J. Hermsdörfer Phenotype and genotype in persistent mirror movements
 
A. Kurz(1), N. Lautenschlager(1), R. Marquard(1), D. Mösch(1), R. Busch(2), R. Egensperger(3), M.B. Graeber(3), K. Altland(4) and U. Müller(4) Apolipoprotein-E-Genotyp und Alzheimer-Krankheit: Beziehung zu relativem Risiko, Erkrankungsalter und Verlauf
 
A. Weindl(1), P. Bartenstein(2), R. Wenzel(2), M. Rehm(1), S. Spiegel(1), T. Meitinger(3), M. Schwaiger(2) and B. Conrad(1) Identical twins with Huntington's disease: differences in cerebral glucose metabolism and clinical manifestation
 
Ann M. Saunders and Allen D. Roses APOLIPOPROTEIN E AND ALZHEIMER'S DISEASE
 
Arthur Bergen, PhD -Survey 97/98 results;Inviting editorial: "Moderated pre-printservices, open peer review"
  Invitation for pre-prints
 
B. Bereznai, G.D. Borasio, A. Winkler and T.Gasser SOD1 Punktmutation in einer Familie mit ALS
 
B. Hamel(1), S. van der Maarel(1), A. Smits(1), E. Mariman(1), H. Kremer(1), F. Cremers(1) and H.H. Ropers(1,2). "Non-specific" X-linked mental retardation: clinical, genetic and molecular studies
 
B. Janetzky(1), C. Schmid(1) , P. Riederer(2) and H. Reichmann(1) Investigations on the point mutations at nt5460 of the mtDNA in different neurodegenerative and neuromuscular diseases
 
C. Zühlke(1), W. Klostermann(2), K. Wessel(2) and E. Schwinger(1) Autosomal dominant cerebellar ataxia and CAG repeat expansion
 
Carlo Gambacorti, MD Open peer review and preprint-services
 
D. Hinze-Selch, T. Wetter, Y. Zhang, H. Lu, F. Holsboer and T. Pollmächer Altered interleukin-6 secretion capacity of monocytes in narcoleptic patients
 
D. Wöhrle, M. Wolf, D. Gläser, S. Schwemmle and P. Steinbach DNA methylation and triplet repeat stability
 
E. Holinski-Feder(1), A. Golla(1), I. Rost(1), H. Seidel(1), T. Strom(1), O. Rittinger(2), K. Wilke(3), T. Meitinger(1) and A. Meindl(1) Linkage analysis and mutation screening in two large families with non-syndromic X-linked mental retardation
 
E. Wilichowski(1), K. Brockmann(1), C. Korenke(1), A. Renneberg(2), J. Frahm(3) and F.Hanefeld(1) Cerebellar ataxia, mental retardation and retinitis pigmentosa associated with T8,993G mitochondrial DNA point mutation
 
G. Haberhausen(1), N. Brockdorff(2), M. Fontes(3), A.P. Monaco(4) and U. Müller(1) Delineation of the XDP gene within a small region of Xq13.1 and characterization of two candidate genes
 
J. Deckert(1,4), M. Nöthen(1), W. Maier(2), P. Franke(2), J. Fritze(3), H. Beckmann(4), H. Ren(5), G.L. Stiles(5) and P. Propping(1) Candidate gene approach in panic disorder: the adenosine A1 receptor
 
J. Gehrmann(1), R.B. Banati(2), F. Beermann(3), E. Hummler(3), J. Blendy(4), G. Schütz(4), G.W. Kreutzberg(2) and A. Aguzzi(1) Role of transcription factors in microglial activation: the cAMP responsive element binding protein (CREB) is involved in microglial activation in vivo
 
J. Kohlhase, R. Schuh, H. Jäckle, B. Schroeder, W. Schulz-Schaeffer, H.A. Kretzschmar, A. Köhler, U. Müller, E. Burkhard, M. Raab-Vetter, W. Engel and R. Stick Isolation and characterization of two human genes similar to the region-specific homeotic Drosophila gene SPALT which show expression in the developing and adult human brain
 
J.-U. Walther(1), W. Müller-Felber(2) und M. Jensen(1) Marinesco-Sjögren-Syndrom: neuro-myopathischer Subtyp?
 
José Eduardo de Salles Roselino
Associated Professor

 Preprint-services
 
K.D. Bathke(1,2), D. Lorek(1), T. Liehr(1), A. Ekici(1), E. Nelis(3), C. Van Broeckhoven(3), H. Grehl(2), D. Claus(2), B. Neundörfer(2) and B. Rautenstrauß(1) Molecular analysis in Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP)
 
Laurie Ozelius GENETICS OF DYSTONIA
 
M. Dichgans(1), M. Mayer(1), B. Müller(2), A. Straube(1) and T. Gasser(1) Informative crossover refines mapping of the CADASIL disease locus
 
M. Hund(1,2), P. Lüdemann(1) und E.B. Ringelstein(1) Hereditäre Stammgangliendegeneration mit dominantem Erbgang - eine Stammbaumstudie
 
M. Kressel(1) and B. Schmucker(2) Neurofibromatosis type 2 protein merlin is highly expressed in human fibroblasts and linked to the plasma membrane
 
M. Oechsner(1), G. Winkler(1), A. Danek(2), M. Ho(3), A.P. Monaco(3) McLeod neuroacanthocytosis: An underdiagnosed syndrome?
 
M. Vorgerd(1), S. Fuchs(2), M. Tegenthoff(1) and J.-P. Malin (1) Molecular genetics of adrenomyeloneuropathy
 
M.B. Graeber, S. Kösel, R. Egensperger, N.M. Schnopp and P. Mehraein The importance of brain banks for neurogenetic research
 
M.M. Nöthen, S. Cichon, J. Erdmann, D. Shimron-Abarbanell and P. Propping Molecular genetic studies of variation in dopamine and serotonin receptor genes
 
N.M. Schnopp, S. Kösel, R. Egensperger, P. Mehraein and M.B. Graeber Distribution of G5460A mutant mtDNA in parkinsonian brain
 
O. Bandmann, C.D. Marsden and A.E. Harding Dopa-responsive dystonia (DRD): 4 new mutations of the GTP cyclohydrolase gene in British patients
 
O. Steinlein
 Eine Mutation im CHRNA4-Gen als Ursache einer idiopathischen Epilepsie
 
O. Windl(1), A. Giese(1), T. Jacobsen(1), T. Bogumil(1), M. Neumann(1), T. Weber(2), S. Poser(2) and H. Kretzschmar(1) Molecular genetics of human prion diseases in Germany
 
P. Weydt, S. Patt and H. Kettenmann Neurotransmitter mediated Ca2+ signalling in human glioma and neurocytoma cells
 
P. Young (1), H. Wiebusch (2), F. Stoegbauer (1), H. Masur (1), B. Ringelstein (1), G. Assmann (2,3), and H. Funke (2,3) Use of four intragenic polymorphisms in the 3'UTR of the PMP-22 gene in the diagnosis of the 17p11.2 deletion in HNPP
 
R. Egensperger, S. Kösel, P. Mehraein and M.B. Graeber Association between apolipoprotein E genotype and neuropathological phenotype in sporadic Alzheimer's disease
 
R. Lencer(1), V. Arolt(1), S. Purmann(2), A. Nolte(1), B. Müller(3), M. Schürmann(2) and E. Schwinger(2) Eye tracking dysfunction as phenotypic marker in linkage studies with schizophrenia
 
S. Kösel, N.M. Schnopp, R. Egensperger, P. Mehraein and M.B. Graeber NADH dehydrogenase and CYP2D6 genotypes in Parkinson's disease
 
T. Gasser(1), Z.Wszolek(2), B. Müller(3) and A. Supala(1) Genetic linkage studies in autosomal dominant parkinsonism: evaluation of candidate genes
 
T. Haase und F. Kreuz Coping strategies of persons at risk for late onset neuro-degenerative disorders with respect to the outcome of predictive DNA analysis
 
U. Finckh(1), M. Giraldo-Velasquez(1), G. Otto(1), O. von Widdern(3), T. Sander(2) , L.G. Schmidt(2), H. Rommelspacher(1) and A. Rolfs(1,3) Phylogeny of the human dopamine D2 receptor gene (DRD2) and investigation of its association with alcoholism
 
U. Mayr-Wohlfart(1), G. Rödel(2), C. Paulus(3) und A. Henneberg(3) Untersuchungen der mitochondrialen DNA bei MS-Patientinnen
 
U. Peters(1), G. Haberhausen(1), H. Muth(1), A. Köhler(1), A.P. Monaco(2) and U. Müller(1) A contig in Xq13.1
 
U. Sure(1), M. Hegi(2), J. Lübbe(2), A. von Deimling(2) and P. Kleihues(2)
 Despite different location pattern, similar p53 gene mutation frequency in pediatric and adult glioblastoma
 
V. Otto(1), P. Vieregge(1), M. Greiwe(2) und P. Steinbach(3) Gen-Konversion bei Dystrophia myotonica
 
W. Kress, B. Halliger-Keller und T. Grimm Die spinale Muskelatrophie Typ Kennedy (XSBMA) in der Differentialdiagnose von Motoneuronerkrankungen
 
W. Paulus, I. Baur, F.M. Boyce, X.O. Breakefield and S.A. Reeves A retroviral vector for tetracycline-regulatable expression of heterologous genes
 
W. Wurst(1,2), V. Blanquet(1,2), M. Hanks(2) and A.L. Joyner(2) Mouse models created by gene targeting to study mid-hindbrain development
   
 
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