D. Hantaı̈

发表

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

D. Figarella-Branger, N. Romero, J. Pouget, 2013, American journal of human genetics.

Plasminogen activators in the neuromuscular system of the wobbler mutant mouse

J. Soria, C. Soria, F. Rieger, 1992, Brain Research.

Plasminogen activators and their inhibitors in the neuromuscular system: II. Serpins and serpin: Protease complex receptors increase during in vitro myogenesis

J. S. Rao, B. Festoff, D. Hantaı̈, 1990, Journal of cellular physiology.

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

S. Bartling, E. Girard, J. Molgó, 2008, Human molecular genetics.

Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging

I. Marty, F. Chevessier, D. Hantaı̈, 2004, Neuromuscular Disorders.

Serine Proteases and Their Serpin Inhibitors in the Nervous System

Disease, B. Festoff, D. Hantaı̈, 1990, NATO ASI Series.

Ultrastructural localization of cellular prion protein (PrPc) at the neuromuscular junction

J. Fournier, F. Escaig-Haye, C. Lasmézas, 1999, Journal of neuroscience research.

Beneficial effects of insulin-like growth factor-I on wobbler mouse motoneuron disease

F. Rieger, B. Festoff, L. Houenou, 1995, Journal of the Neurological Sciences.

The origin of tubular aggregates in human myopathies

B. Eymard, J. Leroy, F. Chevessier, 2005, The Journal of pathology.

Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro

L. Schaeffer, S. Bonavaud, B. Faraut, 2004, The European journal of neuroscience.

Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G‐protein‐coupled protease‐activated receptor‐1

L. Schaeffer, M. Doyennette, B. Faraut, 2003, Journal of Cellular Physiology.

Apolipoprotein E expression at neuromuscular junctions in mouse, rat and human skeletal muscle

M. Villanova, B. Festoff, D. Hantaı̈, 1994, FEBS letters.

Serine proteinase inhibitors in human skeletal muscle: Expression of β‐amyloid protein precursor and α1‐antichymotrypsin in vivo and during myogenesis in vitro

S. Lachkar, B. Festoff, D. Hantaı̈, 1995 .

Expression of the thrombin receptor (PAR‐1) during rat skeletal muscle differentiation

F. Chevessier, D. Hantaı̈, M. Verdiére-Sahuqué, 2001, Journal of cellular physiology.

MUSK, a new target for mutations causing congenital myasthenic syndrome.

C. Legay, L. Schaeffer, E. Goillot, 2004, Human molecular genetics.

Protease nexin I expression is up‐regulated in human skeletal muscle by injury‐related factors

M. Doyennette, M. Jandrot-Perrus, D. Hantaı̈, 1999, Journal of cellular physiology.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

B. Eymard, J. Leroy, M. Fardeau, 2004, Neuromuscular Disorders.

The influence of denervation on β-amyloid protein precursor and α 1-antichymotrypsin in mouse skeletal muscle

B. Greenberg, B. Festoff, D. Hantaı̈, 1993, Neuromuscular Disorders.

Plasminogen activators and their inhibitors in the neuromuscular system: I. Developmental regulation of plasminogen activator isoforms during in vitro myogenesis in two cell lines

J. S. Rao, B. Festoff, D. Hantaı̈, 1990, Journal of cellular physiology.

Adhesive Basement Membrane (BM) Proteins are Degraded by Plasminogen Activator in the Presence of Plasminogen

B. Festoff, D. Hantaı̈, 1986 .

Thrombin receptor induction by injury-related factors in human skeletal muscle cells.

M. Doyennette, M. Jandrot-Perrus, T. Rohn, 2001, Experimental cell research.

Degradation of muscle basement membrane zone by locally generated plasmin

B. Festoff, D. Hantaı̈, 1987, Experimental Neurology.

Plasminogen activator in mammalian skeletal muscle: characteristics of effect of denervation on urokinase-like and tissue activator

A. Thomaïdis, J. Soria, C. Soria, 1986, The Journal of cell biology.

Immunolocalization of fibronectin and other macromolecules of the intercellular matrix in the striated muscle fiber of the adult rat.

J. Labat-Robert, D. Hantaı̈, J. Gautron, 1983, Collagen and related research.

Relationship Between Plasminogen Activators and Regeneration Capacities of Rat Skeletal Muscles

E. Angles-cano, G. Barlovatz-Meimon, E. Frisdal, 1990 .

Synaptic transmission blockade increases plasminogen activator activity in mouse skeletal muscle poisoned with botulinum toxin type A

S. Blot, B. Festoff, D. Hantaı̈, 1995, Synapse.

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

B. Eymard, J. Leroy, E. Krejci, 2003, Neuromuscular Disorders.

Thrombomodulin as a New Marker of Lesion-Induced Astrogliosis: Involvement of Thrombin through the G-Protein-Coupled Protease-Activated Receptor-1

M. Berry, D. Hantaı̈, A. Pindon, 2000, The Journal of Neuroscience.

Plasminogen activators and inhibitors: roles in muscle and neuromuscular regeneration.

B. Festoff, D. Hantaı̈, 1987, Progress in brain research.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

E. Stålberg, Hanns Lochmüller, A. Barois, 2014, Brain : a journal of neurology.

Congenital myasthenic syndromes: an update

B. Eymard, S. Nicole, D. Hantaı̈, 2013, Current opinion in neurology.

Congenital myasthenic syndromes

B. Eymard, P. Richard, D. Hantaı̈, 2004, Handbook of clinical neurology.

Neurotrophic regulation of mouse muscle β‐amyloid protein precursor and α1‐antichymotrypsin as revealed by axotomy

B. Greenberg, B. Festoff, Mohammed Akaaboune, 1994 .

Developmental Regulation of Amyloid Precursor Protein at the Neuromuscular Junction in Mouse Skeletal Muscle

M. Fiszman, R. Magoul, B. Allinquant, 2000, Molecular and Cellular Neuroscience.

Fibronectin, laminin, type I, III and IV collagens in Duchenne's muscular dystrophy, congenital muscular dystrophies and congenital myopathies: an immunocytochemical study.

M. Fardeau, J. Grimaud, J. Labat-Robert, 1985, Connective tissue research.

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Hanns Lochmüller, B. Eymard, J. Cossins, 2004, Journal of Medical Genetics.

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

T. Misteli, E. Hoffman, C. Stewart, 2009, The Journal of cell biology.

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

N. Romero, B. Eymard, B. Fontaine, 2013, Neuromuscular Disorders.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

N. Romero, P. Laforêt, B. Eymard, 2017, Journal of Neurology.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

Thrombospondin, a platelet α-granule and matrix glycoprotein, is increased in muscle basement membrane of patients with amyotrophic lateral sclerosis

J. S. Rao, B. Festoff, D. Hantaı̈, 1992, Journal of the Neurological Sciences.

Serine proteases and their serpin inhibitors in Alzheimer's disease.

B. Festoff, I. Smirnova, D. Hantaı̈, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

V. Meininger, F. Salachas, E. Malfatti, 2013, Brain : a journal of neurology.

[Structural and molecular organization, development and maturation of the neuromuscular junction].

P. Rigoard, K. Buffenoir, J. Giot, 2009, Neuro-Chirurgie.

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

A. Chaboud, L. Schaeffer, E. Goillot, 2009, American journal of human genetics.

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

L. Schaeffer, J. Tanti, D. Freyssenet, 2009, The Journal of cell biology.

Biosynthesis of laminin and fibronectin by rat satellite cells during myogenesis in vitro.

A. Tassin, J. Labat-Robert, D. Hantaı̈, 1985, Cell biology international reports.

Neurotrophic regulation of mouse muscle beta-amyloid protein precursor and alpha 1-antichymotrypsin as revealed by axotomy.

M Akaaboune, B. Greenberg, B. Festoff, 1994, Journal of neurobiology.

The influence of denervation on beta-amyloid protein precursor and alpha 1-antichymotrypsin in mouse skeletal muscle.

B. Greenberg, B. Festoff, D. Hantaı̈, 1993, Neuromuscular disorders : NMD.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

E. Génin, H. Lochmüller, J. Pouget, 2008, Neurology.

congenital myasthenia in North Africa 1293 insG founder mutation is a frequent cause of CHRNE The

E. Génin, J. Pouget, A. Barois, 2008 .

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

B. Eymard, T. Stojkovic, T. Kuntzer, 2012, Neuromuscular Disorders.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients

V. Meininger, F. Salachas, A. Béhin, 2015, Annals of clinical and translational neurology.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

A. Barois, B. Eymard, B. Hainque, 2003, Journal of medical genetics.

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

L. Servais, P. Laforêt, B. Eymard, 2013, Revue neurologique.

126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naarden, The Netherlands

Hanns Lochmüller, A. Engel, D. Beeson, 2005, Neuromuscular Disorders.

Thrombin-induced reversal of astrocyte stellation is mediated by activation of protein kinase C beta-1.

B. Festoff, D. Hantaı̈, A. Pindon, 1998, European journal of biochemistry.

Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Nathalie, N. Romero, P. Laforêt, 2017 .

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

B. Echenne, B. Eymard, E. Fournier, 2007, Neuromuscular Disorders.

[Congenital myasthenic syndromes; French experience].

B. Eymard, M. Fardeau, E. Fournier, 2014, Bulletin de l'Academie nationale de medecine.

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Hanns Lochmüller, D. Beeson, D. Hantaı̈, 2012, Neuromuscular Disorders.

Plasminogen Activators in Development, Injury and Pathology of the Neuromuscular System

J. Soria, C. Soria, J. S. Rao, 1990 .

Decrease in plasminogen activator correlates with synapse elimination during neonatal development of mouse skeletal muscle.

J. S. Rao, B. Festoff, D. Hantaı̈, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Plasminogen activators and inhibitors in the neuromuscular system: III. The serpin protease nexin I is synthesized by muscle and localized at neuromuscular synapses

J. S. Rao, B. Festoff, D. Hantaı̈, 1991, Journal of cellular physiology.

Developmental regulation of the serpin, protease nexin I, localization during activity‐dependent polyneuronal synapse elimination in mouse skeletal muscle

S. Lachkar, M. Kapsimali, B. Festoff, 1998, The Journal of comparative neurology.

Atypical nuclear abnormalities in a patient with Brody disease

Y. Péréon, A. Magot, D. Sternberg, 2015, Neuromuscular Disorders.

Slow and fast rat skeletal muscles differ in their plasminogen activator activities.

G. Barlovatz-Meimon, E. Frisdal, D. Hantaı̈, 1990, European journal of cell biology.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

B. Eymard, F. Bouhour, P. Richard, 2010, Journal of Medical Genetics.

Congenital myasthenic syndromes

B. Eymard, D. Hantaı̈, Jeanine Koenig, 2004, Current opinion in neurology.

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

A. Barois, B. Eymard, P. Richard, 2004, Neuropediatrics.

A Cascade Approach to Synapse Formation Based on Thrombogenic and Fibrinolytic Models

J. S. Rao, B. Festoff, D. Hantaı̈, 1990 .

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

C. Legay, L. Schaeffer, E. Goillot, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

E. Stålberg, Hanns Lochmüller, A. Barois, 2014, Brain : a journal of neurology.

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

T. Misteli, E. Hoffman, C. Stewart, 2009, The Journal of cell biology.

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

L. Schaeffer, J. Tanti, D. Freyssenet, 2009, The Journal of cell biology.

Congenital myasthenic syndromes.

D. Hantaı̈, B. Eymard, Brigitte Estournet, 2013, Handbook of clinical neurology.

Congenital myasthenic syndromes: gene mutations.

D. Hantaı̈, B. Eymard, Brigitte Estournet, 2003, Neuromuscular disorders : NMD.

Plasminogen Activator (PA) in Muscle, Its Activation Post-Denervation

J. Soria, C. Soria, M. Fardeau, 1986 .

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

A. Béhin, D. Hantaı̈, T. Stojkovic, 2013, Revue neurologique.