J. Böhm

发表

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

E. Leshinsky‐Silver, D. Lev, S. Gras, 2012, Acta Neuropathologica.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

N. Romero, L. Pasquier, S. Mercier, 2021, Acta neuropathologica communications.

Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.

J. Böhm, J. Laporte, V. Schartner, 2019, Journal of neuromuscular diseases.

An Integrated Diagnosis Strategy for Congenital Myopathies

E. Malfatti, N. Romero, V. Biancalana, 2013, PloS one.

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

J. Thompson, K. Chennen, O. Poch, 2020, PloS one.

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Jocelyn Laporte, Jean Muller, 2012, Acta Neuropathologica.

Molecular Pathogenesis of Genetic and Inherited Diseases Sall 1 , Sall 2 , and Sall 4 Are Required for Neural Tube Closure in Mice

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2010 .

Sall1, sall2, and sall4 are required for neural tube closure in mice.

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2008, The American journal of pathology.

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

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

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

E. Malfatti, N. Romero, Fengping Xu, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

S. Coppens, E. Pierce-Hoffman, L. Servais, 2019, Annals of neurology.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

E. Malfatti, N. Romero, J. Mandel, 2014, Brain : a journal of neurology.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

N. Romero, E. Ricci, L. Morandi, 2014, Journal of Medical Genetics.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.

L. Amoasii, N. Messaddeq, J. Böhm, 2012, Advances in biological regulation.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

I. Nelson, E. Malfatti, N. Romero, 2018, Journal of neuropathology and experimental neurology.

In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy

Y. Lutz, M. Koch, J. Böhm, 2016, Intravital.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

M. Koch, S. Q. Mehdi, J. Mandel, 2012, European Journal of Human Genetics.

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

K. North, J. Böhm, J. Laporte, 2011, PloS one.

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

J. Böhm, J. Laporte, R. Silva-Rojas, 2022, International journal of molecular sciences.

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

N. Messaddeq, P. Kessler, J. Böhm, 2019, Human molecular genetics.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

A. Echaniz-Laguna, C. Maurage, V. Biancalana, 2020, Human mutation.

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

J. Böhm, J. Laporte, 2018, Cell calcium.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis

M. Oulad-Abdelghani, S. Najib, L. Martinez, 2021, Circulation research.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

R. Finkel, K. Bushby, J. Jaiswal, 2020, Annals of neurology.

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

E. Malfatti, N. Romero, J. Böhm, 2015, Neuromuscular Disorders.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta Neuropathologica Communications.

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

A. Boland, J. Deleuze, A. Echaniz-Laguna, 2017, Acta Neuropathologica.

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

N. Romero, C. Birck, A. Echaniz-Laguna, 2020, Annals of neurology.

Neuropsychiatric Lupus: the Neuroinflammatory Model

N. Messaddeq, P. Kessler, J. Böhm, 2019 .

Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.

R. Depping, F. Kaiser, J. Böhm, 2007, Biochemical and biophysical research communications.

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein

B. Ekman-Joelsson, J. Böhm, W. Heinritz, 2008, BMC Medical Genetics.

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

I. Barthélémy, S. Blot, J. Böhm, 2022, Disease models & mechanisms.

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

B. Wuyam, J. Deleuze, V. Biancalana, 2021, Neurogenetics.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

J. Weis, W. Kress, J. Böhm, 2013, PLoS genetics.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

Mutation update for the ACTN2 gene

J. Böhm, J. Laporte, B. Udd, 2022, Human mutation.

Adult centronuclear myopathies: A hospital-based study.

J. Mandel, A. Echaniz-Laguna, V. Biancalana, 2013, Revue neurologique.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

J. Deleuze, V. Biancalana, S. Saker, 2021, neurogenetics.

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.

N. Romero, G. Bassez, P. Carlier, 2020, Journal of neuropathology and experimental neurology.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

E. Malfatti, N. Romero, R. Carlier, 2017, Neuromuscular Disorders.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, N. Romero, C. Birck, 2017, Acta Neuropathologica.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

E. Malfatti, N. Romero, R. Carlier, 2017, Annals of neurology.

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

K. Claeys, N. Romero, R. Carlier, 2010, Neurology.

Asymmetric muscle weakness due to ACTA1 mosaic mutations

N. Romero, R. Carlier, J. Deleuze, 2020, Neurology.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

J. Weis, W. Kress, J. Böhm, 2013, PLoS Genetics.

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

J. Böhm, J. Laporte, R. Silva-Rojas, 2020, Frontiers in Physiology.

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

G. Mortier, R. Sandford, Bernhard Steiner, 2008, Nature Genetics.

SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

J. Böhm, J. Kohlhase, S. Munk-Schulenburg, 2006, American journal of medical genetics. Part A.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Jocelyn Laporte, J. Böhm, J. Laporte, 2010, Orphanet journal of rare diseases.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

C. Bönnemann, A. Foley, N. Voermans, 2021, Neurology.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

V. Biancalana, J. Böhm, J. Laporte, 2012, European Journal of Human Genetics.

SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway.

Christian Wilhelm, J. Böhm, J. Kohlhase, 2006, Biochemical and biophysical research communications.

[Tubular aggregate myopathy and Stormorken syndrome].

J. Böhm, J. Laporte, 2018, Medecine sciences : M/S.

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

J. Böhm, J. Laporte, C. Spiegelhalter, 2019, bioRxiv.

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

C. Bönnemann, N. Voermans, E. Kamsteeg, 2021, Neurology.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

NG.O.10 CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, M. Mora, J. Böhm, 2017, Neuromuscular Disorders.

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

A. Boland, J. Deleuze, P. Sabouraud, 2018, Journal of neuromuscular diseases.

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

E. Malfatti, N. Romero, A. Boland, 2017, Neurology.

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

J. Böhm, J. Laporte, B. Gény, 2021, Cells.

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

M. Faghihi, J. Böhm, P. Habibzadeh, 2019, Front. Neurol..

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

E. Bertini, N. Romero, J. Böhm, 2016, Journal of neuromuscular diseases.

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

E. Malfatti, N. Romero, A. Boland, 2018, Journal of Medical Genetics.

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

J. Böhm, J. Laporte, Foteini Moschovaki Filippidou, 2023, Molecular therapy. Nucleic acids.

STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice

J. Böhm, R. Silva-Rojas, Susan Treves, 2018 .

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

E. Stålberg, C. Wallgren‐Pettersson, H. Kalimo, 2010, Neuromuscular Disorders.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

[Tubular aggregate myopathy and Stormorken syndrome].

J. Böhm, J. Laporte, Johann Böhm, 2018, Medecine sciences : M/S.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

J. Böhm, R. Silva-Rojas, S. Djeddi, 2024, JCI insight.

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

J. Tolmie, Diana S. Johnson, J. Böhm, 2017, Molecular genetics & genomic medicine.