Katja Grohmann

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

T. Wienker, E. Bertini, A. Pfeufer, 2001, Nature Genetics.

Triple Knock-Out of CNTF, LIF, and CT-1 Defines Cooperative and Distinct Roles of these Neurotrophic Factors for Motoneuron Maintenance and Function

S. Wiese, B. Holtmann, M. Sendtner, 2005, The Journal of Neuroscience.

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

T. Wienker, A. Pfeufer, B. Wirth, 1999, American journal of human genetics.

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1)

G. Stoltenburg‐Didinger, C. Hübner, K. Grohmann, 2005, Acta Neuropathologica.

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).

C. Wessig, W. Rossoll, S. Jablonka, 2004, Human molecular genetics.

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

E. Bertini, A. D’Amico, M. Schuelke, 2004, Human Genetics.

Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, C. Hübner, 2004, Neuropediatrics.

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

K. Zerres, C. Stadelmann, A. Harder, 2002, Journal of child neurology.