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Novel FAM126A mutations in hypomyelination and congenital cataract disease

Biochemical and biophysical research communications, 2013-09, Vol.439 (3), p.369-372

2013

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Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders

Handbook of clinical neurology, 2011, Vol.101, p.135-142

2011

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Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

Clinical genetics, 2014-07, Vol.86 (1), p.99-101

2014

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Bone Morphogenetic Proteins, Their Antagonists, and the Skeleton

Endocrine reviews, 2003-04, Vol.24 (2), p.218-235

2003

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Signals that determine the fate of osteoblastic cells

Journal of endocrinological investigation, 2005, Vol.28 (8 Suppl), p.3-7

2005

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Notch 1 Overexpression Inhibits Osteoblastogenesis by Suppressing Wnt/β-Catenin but Not Bone Morphogenetic Protein Signaling

The Journal of biological chemistry, 2006-03, Vol.281 (10), p.6203-6210

2006

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P.36a "suMus", a novel digital system for arm movement metrics and muscle energy expenditure in neuromuscular diseases

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S58

2022

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Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

Journal of neurology, neurosurgery and psychiatry, 2008-06, Vol.79 (6), p.735-737

2008

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LGMD: EP.191 Selective P2 × 7 antagonism to dampen inflammation in alpha-sarcoglycan-deficient muscular dystrophy

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S107-S107

2021

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LGMD

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S107

2021

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Notch 1 Impairs Osteoblastic Cell Differentiation

Endocrinology (Philadelphia), 2003-12, Vol.144 (12), p.5631-5639

2003

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Bone morphogenetic proteins induce the expression of noggin, which limits their activity in cultured rat osteoblasts

The Journal of clinical investigation, 1998-12, Vol.102 (12), p.2106-2114

1998

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Noggin arrests stromal cell differentiation in vitro

Bone (New York, N.Y.), 2003-02, Vol.32 (2), p.111-119

2003

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Skeletal Overexpression of Gremlin Impairs Bone Formation and Causes Osteopenia

Endocrinology (Philadelphia), 2005-02, Vol.146 (2), p.655-665

2005

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Genetic Analyses of the HRPT2 Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors

The journal of clinical endocrinology and metabolism, 2004-11, Vol.89 (11), p.5583-5591

2004

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Potential drug targets within bone morphogenetic protein signaling pathways

Current opinion in pharmacology, 2007-06, Vol.7 (3), p.325-333

2007

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Menstrual cycle and ovary alterations in women with epilepsy on antiepileptic therapy

Journal of endocrinological investigation, 1997-10, Vol.20 (9), p.519-526

1997

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G.P.6.06 Treatment with the proteasomal inhibitor Velcade rescues the dystrophin complex in experimental and pathological models of muscular dystrophies

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.802-803

2007

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G.P.8.08 Caveolin-3 T78K and T78M missense mutations lead to different phenotypes in vivo and in vitro

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.812-812

2007

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Overexpression of Twisted Gastrulation Inhibits Bone Morphogenetic Protein Action and Prevents Osteoblast Cell Differentiation in Vitro

Endocrinology (Philadelphia), 2005-09, Vol.146 (9), p.3875-3882

2005

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Potentiating role of IGFBP-2 on IGF-II-stimulated alkaline phosphatase activity in differentiating osteoblasts

American journal of physiology: endocrinology and metabolism, 2004-04, Vol.286 (4), p.E648-E657

2004

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Functional characterization of the c. 462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

Clinical genetics, 2014-07, Vol.86 (1), p.99-101

2014

Volltextzugriff (PDF)

Role of the Ram Domain and Ankyrin Repeats on Notch Signaling and Activity in Cells of Osteoblastic Lineage

Journal of bone and mineral research, 2006-08, Vol.21 (8), p.1317-1326

2006

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A reappraisal of the Rb1 gene abnormalities in the diagnosis of parathyroid cancer

Clinical endocrinology (Oxford), 2004-01, Vol.60 (1), p.99-106

2004

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Twisted gastrulation, a bone morphogenetic protein agonist/antagonist, is not required for post-natal skeletal function

Bone (New York, N.Y.), 2006-12, Vol.39 (6), p.1252-1260

2006

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Novel FAM126A mutations in hypomyelination and congenital cataract disease

Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

Bone Morphogenetic Proteins, Their Antagonists, and the Skeleton

Signals that determine the fate of osteoblastic cells

Notch 1 Overexpression Inhibits Osteoblastogenesis by Suppressing Wnt/β-Catenin but Not Bone Morphogenetic Protein Signaling

P.36a "suMus", a novel digital system for arm movement metrics and muscle energy expenditure in neuromuscular diseases

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

LGMD: EP.191 Selective P2 × 7 antagonism to dampen inflammation in alpha-sarcoglycan-deficient muscular dystrophy

LGMD

Notch 1 Impairs Osteoblastic Cell Differentiation

Bone morphogenetic proteins induce the expression of noggin, which limits their activity in cultured rat osteoblasts

Noggin arrests stromal cell differentiation in vitro

Skeletal Overexpression of Gremlin Impairs Bone Formation and Causes Osteopenia

Genetic Analyses of the HRPT2 Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors

Potential drug targets within bone morphogenetic protein signaling pathways

Menstrual cycle and ovary alterations in women with epilepsy on antiepileptic therapy

G.P.6.06 Treatment with the proteasomal inhibitor Velcade rescues the dystrophin complex in experimental and pathological models of muscular dystrophies

G.P.8.08 Caveolin-3 T78K and T78M missense mutations lead to different phenotypes in vivo and in vitro

Overexpression of Twisted Gastrulation Inhibits Bone Morphogenetic Protein Action and Prevents Osteoblast Cell Differentiation in Vitro

Potentiating role of IGFBP-2 on IGF-II-stimulated alkaline phosphatase activity in differentiating osteoblasts

Functional characterization of the c. 462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

Role of the Ram Domain and Ankyrin Repeats on Notch Signaling and Activity in Cells of Osteoblastic Lineage

A reappraisal of the Rb1 gene abnormalities in the diagnosis of parathyroid cancer

Twisted gastrulation, a bone morphogenetic protein agonist/antagonist, is not required for post-natal skeletal function

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