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ArticlesPeer ReviewedFull Text
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee
Author / Creator:Rolvien, T. ; Kornak, U. ; Schinke, T. ; Amling, M. ; Oheim, R.
Publisher:London: Springer London
Journal title:Osteoporosis international, 2019-03, Vol.30 (3), p.685-689
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Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2
Author / Creator:Butscheidt, S. ; Delsmann, A. ; Rolvien, T. ; Barvencik, F. ; Al-Bughaili, M. ; Mundlos, S. ; Schinke, T. ; Amling, M. ; Kornak, U. ; Oheim, R.
Publisher:London: Springer London
Journal title:Osteoporosis international, 2018-07, Vol.29 (7), p.1643-1651
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ArticlesPeer ReviewedFull Text
Targeting TGF‐β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica
Author / Creator:Chan, W. L. ; Bucher, C. H. ; Goldes, J. ; Ma, A. C. ; Steiner, M. ; Willie, B. M. ; Mundlos, S. ; Kornak, U.
Publisher:England: John Wiley & Sons, Inc
Journal title:Aging cell, 2024-12, Vol.23 (12), p.e14322-n/a
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Obituary for Dieter Felsenberg
Author / Creator:Bühring, B. ; Glüer, C.-C. ; Jakob, F. ; Karberg, K. ; Kornak, U ; Thomasius, F.
Publisher:London: Springer London
Journal title:Osteoporosis international, 2021-06, Vol.32 (6), p.1247-1248
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ArticlesPeer ReviewedFull Text
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern
Author / Creator:Rolvien, T. ; Kornak, U. ; Stürznickel, J. ; Schinke, T. ; Amling, M. ; Mundlos, S. ; Oheim, R.
Publisher:London: Springer London
Journal title:Osteoporosis international, 2018-01, Vol.29 (1), p.243-246
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ArticlesPeer ReviewedFull Text
OP0041 Essential role for TRPC1 channels in osteoclast fusion and in osteoporotic bone loss
Author / Creator:Umlauf, D. ; Hidding, H. ; Lindemann, L.O. ; Frank, S. ; Dankbar, B. ; Cromme, C. ; Rupp, M. ; Stange, R. ; Marshall, R.P. ; Amling, M. ; Dietrich, A. ; Steiner, M. ; Kornak, U. ; Schwab, A. ; Pap, T. ; Bertrand, J.
Publisher:Kidlington: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.66-67
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ArticlesPeer ReviewedFull Text
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
Author / Creator:Borthwick, K J ; Kandemir, N ; Topaloglu, R ; Kornak, U ; Bakkaloglu, A ; Yordam, N ; Ozen, S ; Mocan, H ; Shah, G N ; Sly, W S ; Karet, F E
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2003-02, Vol.40 (2), p.115-121
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ArticlesPeer ReviewedFull Text
AB0067 CHONDROCALCINOSIS IS ASSOCIATED WITH A SPECIFIC EFFECT ON THE CHONDROCYTE PHENOTYPE THAT MARKEDLY DIFFERS FROM OA
Author / Creator:Meyer, F. ; Bollmann, M. ; Kornak, U. ; Bertrand, J.
Publisher:BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2020-06, Vol.79 (Suppl 1), p.1334-1334
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ArticlesPeer ReviewedFull Text
Loss of the chloride channel CIC-7 leads to lysosomal storage disease and neurodegeneration
Author / Creator:Kasper, D ; Planells-Cases, R ; Fuhrmann, J C ; Scheel, O ; Zeitz, O ; Ruether, K ; Schmitt, A ; Poeet, M ; Steinfeld, R ; Schweizer, M ; Kornak, U ; Jentsch, T J
Journal title:The EMBO journal, 2005-03, Vol.24 (5), p.1079-1091
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ArticlesPeer ReviewedFull Text
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
Author / Creator:Kasper, Dagmar ; Planells-Cases, Rosa ; Fuhrmann, Jens C ; Scheel, Olaf ; Zeitz, Oliver ; Ruether, Klaus ; Schmitt, Anja ; Poët, Mallorie ; Steinfeld, Robert ; Schweizer, Michaela ; Kornak, Uwe ; Jentsch, Thomas J
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2005-03, Vol.24 (5), p.1079-1091
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ArticlesPeer ReviewedFull Text
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
Author / Creator:Ramírez, Alfredo ; Faupel, Julia ; Goebel, Ingrid ; Stiller, Anne ; Beyer, Susanne ; Stöckle, Christina ; Hasan, Carola ; Bode, Udo ; Kornak, Uwe ; Kubisch, Christian
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-05, Vol.23 (5), p.471-476
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ArticlesPeer ReviewedFull Text
Transient receptor potential canonical channel 1 dependent pathways are required for osteoclast fusion and mediate osteoporotic bone loss
Author / Creator:Umlauf, D ; Hidding, H ; Lindemann, O ; Dankbar, B ; Frank, S ; Cromme, C ; Dietrich, A ; Marshall, R P ; Amling, M ; Steiner, M ; Kornak, U ; Schwab, A ; Pap, T ; Bertrand, J
Publisher:Kidlington: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2012-02, Vol.71 (Suppl 1), p.A67-A67
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ArticlesPeer ReviewedFull Text
Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study
Author / Creator:Thompson, M. ; Ott, C.-E. ; Ahrens, S. ; Kornak, U. ; Mundlos, S. ; Duda, G.
Publisher:Elsevier Ltd
Journal title:Journal of biomechanics, 2006, Vol.39, p.S444-S444
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A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

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Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

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Targeting TGF‐β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica

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Obituary for Dieter Felsenberg

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A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

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OP0041 Essential role for TRPC1 channels in osteoclast fusion and in osteoporotic bone loss

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A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

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AB0067 CHONDROCALCINOSIS IS ASSOCIATED WITH A SPECIFIC EFFECT ON THE CHONDROCYTE PHENOTYPE THAT MARKEDLY DIFFERS FROM OA

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Loss of the chloride channel CIC-7 leads to lysosomal storage disease and neurodegeneration

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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

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Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis

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Transient receptor potential canonical channel 1 dependent pathways are required for osteoclast fusion and mediate osteoporotic bone loss

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Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study

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