M. Wehnert

发表

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy.

P. Wieacker, M. Volleth, F. Eckhardt, 2007, Journal of molecular endocrinology.

Intron 22 of factor VIII gene--a hot spot for structural aberrations causing severe hemophilia A.

F. Herrmann, M. Wehnert, W. Schröder, 1996, Blood.

Characterization of three new deletions at the 5′ end of the HPRT structural gene

F. Herrmann, M. Wehnert, 1990, Journal of Inherited Metabolic Disease.

Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells

P. Taimen, T. Shimi, R. Goldman, 2015, Nucleus.

Prelamin A processing and functional effects in restrictive dermopathy

N. Lévy, C. Capanni, G. Lattanzi, 2010, Cell cycle.

Pre‐Lamin A processing is linked to heterochromatin organization

R. Foisner, N. Maraldi, C. Capanni, 2007, Journal of cellular biochemistry.

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.

C. Müller, A. Noegel, M. Dabauvalle, 2007, Human molecular genetics.

LINC complex alterations in DMD and EDMD/CMT fibroblasts

A. Noegel, I. Karakesisoglou, P. Meinke, 2012, European journal of cell biology.

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

C. Bönnemann, J. Denecke, P. Wieacker, 2005, Annals of neurology.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

I. Desguerre, T. Arimura, H. Worman, 2004, Muscle & nerve.

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein

O. Zhuchenko, M. Wehnert, D. Patzak, 1999, Human Genetics.

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

M. Böhm, R. Dietz, N. Duong, 2008, Basic Research in Cardiology.

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization

G. Gundersen, H. Worman, G. Lattanzi, 2014, PLoS genetics.

Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

H. Bolz, A. Gal, M. Wehnert, 1999, Journal of Inherited Metabolic Disease.

Animal Cytogenetics and Comparative Mapping

D. Kloos, M. Wehnert, K. Langnaese, 2002 .

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

Genomic organization of the human complex I 13-kDa subunit gene NDUFA5

A. Metspalu, M. Wehnert, I. Pata, 1999, Cytogenetic and Genome Research.

Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

J. Bailey, O. Zhuchenko, Z. -. Sun, 1996, Genomics.

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation

R. Schröder, F. Chevessier, M. Wehnert, 2013, Neuromuscular Disorders.

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

A. Hattersley, M. Walker, S. Ellard, 2008, American journal of medical genetics. Part A.

Restrictive dermopathy: a rare laminopathy

C. Jackisch, T. Nguyen, I. Hausser, 2008, Archives of Gynecology and Obstetrics.

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

E. Ricci, D. Toniolo, F. Hanisch, 2002, Neuromuscular Disorders.

60th ENMC International Workshop: Non X-linked Emery–Dreifuss Muscular Dystrophy, 5–7 June 1998, Naarden, The Netherlands

F. Muntoni, M. Wehnert, 1999, Neuromuscular Disorders.

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

D. Ledbetter, C. Caskey, O. Reiner, 1993, Nature.

Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c‐myb ET‐locus in two families with hereditary neuralgic amyotrophy (HNA)

C. Broeckhoven, J. Meuleman, V. Timmerman, 1998, Annals of human genetics.

Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

E. C. Schirmer, Michael I. Robson, B. Schoser, 2017, Neuromuscular Disorders.

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

E. C. Schirmer, D. Cavanagh, P. Schneiderat, 2015, Neuromuscular Disorders.

LiNC Complex and Human Genetic Muscular Disease

P. Meinke, M. Wehnert, 2012 .

The LINC complex and human disease.

T. Nguyen, P. Meinke, M. Wehnert, 2011, Biochemical Society transactions.

Deletion screening and prenatal diagnosis of Duchenne muscular dystrophy using cDNA probes Cf 23a and Cf 56a

K. Wulff, F. Herrmann, M. Schütz, 2005, European Journal of Pediatrics.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

N. Lévy, D. Amor, V. Cormier-Daire, 2013, European Journal of Human Genetics.

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

G. Boriani, Y. Pinto, F. Muntoni, 2003, Neuromuscular Disorders.

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

D. Turnbull, M. Zeviani, P. Chinnery, 2002, Neurology.

Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope.

U. Aebi, A. Noegel, B. Fahrenkrog, 2005, Molecular biology of the cell.

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

F. Güttler, K. Wulff, F. Herrmann, 1988, Clinical genetics.

Prenatal diagnosis of phenylketonuria by haplotype analysis

K. Wulff, F. Herrmann, M. Schütz, 1989, Prenatal diagnosis.

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.

N. Maraldi, C. Capanni, A. Ognibene, 2003, Experimental cell research.

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy.

C. Vigouroux, B. Buendia, J. Capeau, 2003, Experimental cell research.

Reply to the letter by Kling et al.

F. Herrmann, M. Wehnert, W. Schröder, 1992, Human Genetics.

Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development

D. Furling, C. Sewry, E. McNally, 2010, Developmental dynamics : an official publication of the American Association of Anatomists.

World distribution of factor V Leiden mutation

P. Reitsma, P. Morel, J. Jespersen, 1996, The Lancet.

RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic

K. Wulff, F. Herrmann, M. Wehnert, 1990, Clinical genetics.

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

D. Fürst, H. Vosberg, M. Wehnert, 2000, Human Genetics.

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

D. Ledbetter, C. Caskey, O. Reiner, 1993, Nature.

Emery-Dreifuss-Muskeldystrophie

M. Wehnert, 2009 .

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

F. Muntoni, S. Manilal, F. Leturcq, 1998, Human molecular genetics.

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.

T. Meitinger, A. Meindl, H. Hellebrand, 1996, Genome research.

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.

A. C. Chinault, J. Bailey, A. Baldini, 1995, Human molecular genetics.

The Emery-Dreifuss Muscular Dystrophy Mutation Database.

J. Yates, M. Wehnert, 1999, Neuromuscular disorders : NMD.

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Juliet A. Ellis, B. Schlotter-Weigel, J. Skepper, 2007, Human molecular genetics.

The nuclear muscular dystrophies.

G. Bonne, M. Wehnert, 2002, Seminars in pediatric neurology.

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope.

J. Broers, F. Ramaekers, W. Whitfield, 2001, Journal of cell science.

Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy

W. Grosse-Heitmeyer, K. Wulff, F. Herrmann, 1999, Neuromuscular Disorders.

Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy

J. Parrish, K. Wulff, F. Herrmann, 1997 .

A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.

R. F. Smith, K. Worley, O. Zhuchenko, 1996, Genome research.

Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

Juliet A. Ellis, M. Parsons, J. A. Ellis, 2009, Biochimica et biophysica acta.

Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.

M. Dabauvalle, B. Buendia, M. Wehnert, 2009, European Journal of Cell Biology.

Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis.

P. Ward, K. Wulff, F. Herrmann, 1997, Disease markers.

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.

J. Parrish, K. Wulff, F. Herrmann, 1997, Human mutation.

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

G. Novelli, N. Maraldi, C. Capanni, 2005, Human molecular genetics.

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

F. Muntoni, E. C. Schirmer, B. Schoser, 2019, EBioMedicine.

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism

F. Muntoni, E. C. Schirmer, B. Schoser, 2019, bioRxiv.

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

A. Kariminejad, Le Thi Thanh Huong, M. Wehnert, 2009, Saudi medical journal.

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

S. Magina, J. Lopes, H. Guimarães, 2009, European Journal of Pediatrics.

Structural gene aberrations in mucopolysaccharidosis II (Hunter)

J. Hopwood, F. Herrmann, M. Wehnert, 1992, Human Genetics.

Deletion screening in patients with Duchenne muscular dystrophy

K. Wulff, F. Herrmann, M. Wehnert, 1989, Journal of Neurology.

Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

L. Petruschka, J. Hopwood, F. Herrmann, 1993, Journal of medical genetics.

Deletion analysis of DMD/BMD families from the German Democratic Republic and selected regions of Czechoslovakia and Hungary.

L. Kádasi, C. Coutelle, K. Wulff, 1990, Journal of medical genetics.

Mutations of the iduronate‐2‐sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II)

K. Wulff, F. Herrmann, M. Wehnert, 1994, Human mutation.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

S. Heath, J. Jais, D. Zélénika, 2009, American journal of human genetics.

Reliability of the Tønnesen technique for the identification of Hunter carriers

L. Petruschka, M. Wehnert, G. Seidlitz, 2004, Human Genetics.

Large-scale screening for factor V Leiden mutation in a north-eastern German population.

K. Wulff, F. Herrmann, M. Wehnert, 1996, Haemostasis.

Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies

A. Noegel, Ping Li, P. Meinke, 2014, Human mutation.

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C

D. Mitter, L. Horn, W. Kiess, 2013, Aging.

Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics

G. Novelli, N. Maraldi, C. Capanni, 2014, Aging.

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

G. Novelli, N. Maraldi, C. Capanni, 2012, Cell cycle.

Distinct association of the nuclear pore protein Nup153 with A- and B-type lamins

J. Köser, B. Fahrenkrog, D. Shumaker, 2011, Nucleus.

Genetic complementation analysis in somatic cell hybrids of α-L-iduronidase deficient cells

L. Petruschka, M. Wehnert, G. Machill, 1985, Human Genetics.

Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants.

S. Hübner, M. Wehnert, W. Heupel, 2009, Experimental cell research.

Early onset of cardiomyopathy in two brothers with X-linked Emery–Dreifuss muscular dystrophy

I. Talvik, T. Talvik, K. Wulff, 2002, Neuromuscular Disorders.

Short case report Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy

I. Talvik, T. Talvik, K. Wulff, 2002 .

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

C. Broeckhoven, J. Meuleman, E. Airaksinen, 1999, European Journal of Human Genetics.

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2007, Neurogenetics.

Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues

D. Kloos, P. Wieacker, M. Wehnert, 2002, Cytogenetic and Genome Research.

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

A. Munnich, G. Brown, M. Zeviani, 2001, Journal of Inherited Metabolic Disease.

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

A. Munnich, A. Rosenthal, S. Kenwrick, 1994, Human molecular genetics.

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

C. van Broeckhoven, J. Meuleman, V. Timmerman, 1997, Neurology.

Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD‐EDMD) (LGMD1B)

S. Rudnik-Schöneborn, M. Gleichmann, F. Hanisch, 2006, Brain pathology.

Molecular Genetics of Emery–Dreifuss Muscular Dystrophy

C. Sewry, G. Morris, M. Wehnert, 2010 .

Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells.

N. Maraldi, L. Cocco, G. Arrigoni, 2008, Journal of proteome research.

Lamin A/C assembly defects in Emery–Dreifuss muscular dystrophy can be regulated by culture medium composition

I. Holt, G. Morris, M. Wehnert, 2006, Neuromuscular Disorders.

PENCEA, V, KD BÍNGAMAN, LJ FREEDMAN, and MB LUSKIN, 200 1. Neurogenesis in the subventricular zone and rostral migra-tory stream of the neonatal and adult primate forebrain. Exp. Neural. 172: 1-16

O. Reiner, E. Andermann, J. Motte, 2004 .

What message does the nuclear envelope hold?

Hanns Lochmüller, M. Wehnert, 2007, Neurology.

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

E. C. Schirmer, D. Cavanagh, P. Schneiderat, 2015, Neuromuscular Disorders.

Clinical analysis of 32 patients carrying R453W LMNA mutation

F. Muntoni, B. Eymard, D. Toniolo, 2002 .

The LINC complex and human disease.

T. Nguyen, P. Meinke, M. Wehnert, 2011, Biochemical Society Transactions.

Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics

G. Novelli, N. Maraldi, C. Capanni, 2014, Aging.

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation

R. Schröder, F. Chevessier, M. Wehnert, 2013, Neuromuscular Disorders.

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.

N. Duong, I. Niebroj-Dobosz, A. Fidziańska, 2010, Clinical neuropathology.

A pathogenic mechanism leading to partial lipodistrophy and prospects for pharmacological treatment of insulin resistance syndrome.

N. Maraldi, C. Capanni, G. Lattanzi, 2007, Acta bio-medica : Atenei Parmensis.

Twenty‐five novel mutations of the factor IX gene in haemophilia B

F. Herrmann, M. Wehnert, W. Schröder, 1995, Human mutation.