C. Hübner

发表

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Peter Nürnberg, Markus Schuelke, Franz Rüschendorf, 2004, American journal of human genetics.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

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.

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

T. Wienker, H. Ropers, A. Kaindl, 2014, Cell cycle.

Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854))

Peter Nürnberg, Eduard Schmid, Franz Rüschendorf, 2004 .

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Hiromi Hirata, K. Zerres, S. Rudnik-Schöneborn, 2016, American Journal of Human Genetics.

Redefining the MED13L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015, European Journal of Human Genetics.

Pontocerebellar hypoplasia type 1

S. Nelson, W. Reardon, F. Muntoni, 2013, Neurology.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical 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.

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

M. Schuelke, P. Boffi, C. Hübner, 2012, Pediatrics.

Distress Type 1 (SMARD1) The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory

M. Schuelke, P. Boffi, C. Hübner, 2011 .

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2004, Journal of child neurology.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

M. Schuelke, C. Hübner, K. von Au, 2007, Human mutation.

A small in‐frame deletion within the protease domain of muscle‐specific calpain, p94 causes early‐onset limb‐girdle muscular dystrophy 2A

C. Hübner, T. Voit, K. Oexle, 1998 .

Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations

A. Ludolph, C. Hübner, A. Sperfeld, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy

T. Braun, D. Mennerich, M. Schuelke, 2000, Neuromuscular Disorders.

Serum antibodies to the deleted dystrophin sequence after cardiac transplantation in a patient with Becker's muscular dystrophy.

W. Kress, C. Hübner, T. Voit, 1995, The New England journal of medicine.

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities

M. Schuelke, E. Klopocki, W. Kress, 2007, Muscle & nerve.

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

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

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.

C. Hübner, T. Voit, K. Oexle, 1996, Human molecular genetics.

Myostatin mutation associated with gross muscle hypertrophy in a child.

T. Braun, M. Schuelke, C. Hübner, 2004, The New England journal of medicine.

Congenital myopathy with excess of thin myofilaments

H. Goebel, C. Hübner, K. Oexle, 1997, Neuromuscular Disorders.

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

J. Beckmann, I. Richard, A. Lasa, 1998, The American journal of pathology.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

K. Pelin, F. Muntoni, R. Sutphen, 1999, Nature Genetics.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

P. Robinson, S. Mundlos, E. Chouery, 2006, American journal of human genetics.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

T. Wienker, H. Ropers, T. Wai, 2016, eLife.

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

M. Schuelke, W. Stenzel, A. von Moers, 2014, Journal of Medical Genetics.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

T. Wienker, H. Ropers, C. Birchmeier, 2017, PLoS genetics.

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.

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

D. Horn, S. Mundlos, T. Lindner, 2009, European Journal of Human Genetics.

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

J. Azofeifa, M. Cremer, C. Hübner, 1995, Human Genetics.

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

H. Urbach, K. Zerres, S. Rudnik-Schöneborn, 2005, Neuroscience.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

E. Bertini, K. Bushby, F. Muntoni, 2003, Annals of neurology.

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.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, M. Schuelke, 2017, European Journal of Human Genetics.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, E. Knierim, 2016, European Journal of Human Genetics.

Multipoint mapping of the central core disease locus.

C. Hübner, D. Maclennan, T. Grimm, 1993, Genomics.

Neurosensory hearing loss in secondary adhalinopathy.

K. Campbell, F. Leturcq, J. Kaplan, 1996, Neuropediatrics.

Cystic leukoencephalopathy without megalencephaly

E. Bertini, S. Naidu, D. Rodriguez, 2005, Neurology.

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

S. Mundlos, M. Holtgrewe, M. Schuelke, 2020, Journal of inherited metabolic disease.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

T. Wienker, M. Jijiwa, H. Ropers, 2014, Annals of clinical and translational neurology.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27

U. Stephani, J. Bohl, C. Hübner, 2006, Neurology.

Is microcephaly a so-far unrecognized feature of XYY syndrome?☆

A. Kaindl, C. Hübner, C. Bührer, 2014, Meta gene.

WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome?

A. Kaindl, C. Hübner, C. Bührer, 2013, Gene.

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

G. Dittmar, J. Mendell, U. Stephani, 2008, Journal of Molecular Medicine.

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait

B. Burwinkel, M. Wirtenberger, C. Hübner, 2005, American journal of medical genetics. Part A.

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

M. Schuelke, C. Hübner, K. Rüther, 2009, Clinical genetics.

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, M. Schuelke, 2008, Journal of child neurology.

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.

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

P. Seibel, C. Hübner, B. Finckh, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

B. Hartmann, D. Horn, E. Klopocki, 2014, Orphanet Journal of Rare Diseases.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.