Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Por Neusch, Clemens, Kuhlmann, Tanja, Kress, Wolfram, Schneider-Gold, Christiane
Publicado em 2012

Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

Por GRIMM, TIEMO, KRESS, WOLFRAM, MENG, GERHARD, MÜLLER, CLEMENS R.
Publicado em 2012

Sustained Platelet-Derived Growth Factor Receptor α Signaling in Osteoblasts Results in Craniosynostosis by Overactivating the Phospholipase C-γ Pathway

Por Moenning, Anne, Jäger, Richard, Egert, Angela, Kress, Wolfram, Wardelmann, Eva, Schorle, Hubert
Publicado em 2009

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

Por Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone
Publicado no Eur J Hum Genet (2016)

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Por Graul-Neumann, Luitgard M., Klopocki, Eva, Adolphs, Nicolai, Mensah, Martin A., Kress, Wolfram
Publicado no Mol Syndromol (2017)

Clinical utility gene card for: proximal spinal muscular atrophy

Por Rudnik–Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus
Publicado em 2012

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

Por Schreiber, Olivia, Schneiderat, Peter, Kress, Wolfram, Rautenstrauss, Bernd, Senderek, Jan, Schoser, Benedikt, Walter, Maggie C
Publicado em 2013

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

Por Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus
Publicado no Eur J Hum Genet (2015)

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

Por Smogavec, Mateja, Zschüntzsch, Jana, Kress, Wolfram, Mohr, Julia, Hellen, Peter, Zoll, Barbara, Pauli, Silke, Schmidt, Jens
Publicado no Neurol Genet (2017)

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Por Mahyera, Alexis S., Schneider, Tamara, Halliger-Keller, Birgit, Schrooten, Katja, Hörner, Eva-Maria, Rost, Simone, Kress, Wolfram
Publicado no Front Neurol (2018)

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Por Suominen, Tiina, Schoser, Benedikt, Raheem, Olayinka, Auvinen, Satu, Walter, Maggie, Krahe, Ralf, Lochmüller, Hanns, Kress, Wolfram, Udd, Bjarne
Publicado em 2008

Clinical utility gene card for: Centronuclear and myotubular myopathies

Por Biancalana, Valérie, Beggs, Alan H, Das, Soma, Jungbluth, Heinz, Kress, Wolfram, Nishino, Ichizo, North, Kathryn, Romero, Norma B, Laporte, Jocelyn
Publicado em 2012

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

Por Decker, Eva, Stellzig-Eisenhauer, Angelika, Fiebig, Britta S., Rau, Christiane, Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Weber, Bernhard H.F.
Publicado em 2008

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Por Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R
Publicado no Eur J Hum Genet (2015)

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Por Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans
Publicado em 2012

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Por Oliveira, Jorge, Oliveira, Márcia E, Kress, Wolfram, Taipa, Ricardo, Pires, Manuel Melo, Hilbert, Pascale, Baxter, Peter, Santos, Manuela, Buermans, Henk, den Dunnen, Johan T, Santos, Rosário
Publicado em 2013

The Caveolin‐3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis

Por Brauers, Eva, Roos, Andreas, Kollipara, Laxmikanth, Zahedi, René P., Beckmann, Alf, Mohanadas, Nilane, Bauer, Hartmut, Häusler, Martin, Thoma, Stéphanie, Kress, Wolfram, Senderek, Jan, Weis, Joachim
Publicado no Proteomics Clin Appl (2016)

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Por Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda, Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn
Publicado em 2013

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Por Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda S., Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn
Publicado em 2013

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Por Petersen, Jens A., Kuntzer, Thierry, Fischer, Dirk, von der Hagen, Maja, Huebner, Angela, Kana, Veronika, Lobrinus, Johannes A., Kress, Wolfram, Rushing, Elisabeth J., Sinnreich, Michael, Jung, Hans H.
Publicado no BMC Neurol (2015)