Publications by authors named "Katja Grohmann"

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A new mutation of IGHMBP2 gene.
Ulf P Guenther, Markus Schuelke, Katja Grohmann, Raymonda Varon

Pediatr Neurol· February 2006

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The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Alexander Diers, Marcel Kaczinski, Katja Grohmann, Christoph Hübner, Gisela Stoltenburg-Didinger

Acta Neuropathol· September 2005

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Triple knock-out of CNTF, LIF, and CT-1 defines cooperative and distinct roles of these neurotrophic factors for motoneuron maintenance and function.
Bettina Holtmann, Stefan Wiese, Mohtashem Samsam, Katja Grohmann, Diane Pennica

J Neurosci· February 2005

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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Katja Grohmann, Wilfried Rossoll, Igor Kobsar, Bettina Holtmann, Sibylle Jablonka

Hum Mol Genet· September 2004

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Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
Ulf P Guenther, Markus Schuelke, Enrico Bertini, Adele D'Amico, Nathalie Goemans, Katja Grohmann

Hum Genet· September 2004

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'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.
Richard E Appleton, Christoph Hübner, Katja Grohmann, Raymonda Varon

Dev Med Child Neurol· August 2004

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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Katja Grohmann, Raymonda Varon, Piroschka Stolz, Markus Schuelke, Catrin Janetzki

Ann Neurol· December 2003

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Severe spinal muscular atrophy variant associated with congenital bone fractures.
Ursula Felderhoff-Mueser, Katja Grohmann, Anja Harder, Christine Stadelmann, Klaus Zerres

J Child Neurol· September 2002

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