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Superfluid Fraction in an Interacting Spatially Modulated Bose-Einstein Condensate

Physical review letters, 2023-06, Vol.130 (22), p.226003-226003, Article 226003

2023

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A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis

Clinical genetics, 2017-05, Vol.91 (5), p.780-786

2017

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Mapping Horizontal Spread of Activity in Monkey Motor Cortex Using Single Pulse Microstimulation

Frontiers in neural circuits, 2016-12, Vol.10, p.104-104

2016

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Decoding covert shifts of attention induced by ambiguous visuospatial cues

Frontiers in human neuroscience, 2015-06, Vol.9, p.358-358

2015

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Handling Metadata in a Neurophysiology Laboratory

Frontiers in neuroinformatics, 2016-07, Vol.10, p.26-26

2016

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Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Neurology, 2010-02, Vol.74 (6), p.519

2010

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Exome sequencing identifies a novel MYH7 mutation in a patient with nemaline myopathy and cardiomyopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S134-S134

2016

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Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S193-S193

2016

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A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S93-S94

2016

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Brain-computer interaction for online enhancement of visuospatial attention performance

Journal of neural engineering, 2018-08, Vol.15 (4), p.046017-046017

2018

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G.P.269

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.898-898

2014

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ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S133-S133

2016

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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S287-S288

2015

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G.P.264

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-896

2014

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G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.902-902

2012

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CONGENITAL MYOPATHIES: RYR1 AND TITIN: P.229Electron microscopy characterisation of triads in RYR1 rhabdomyolysis-myalgia syndrome

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S133-S133

2019

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CONGENITAL MYOPATHIES: RYR1 AND TITIN

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S133

2019

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P1.47 Retrospective analysis of 309 muscle biopsies performed exclusively during the neonatal period

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.614-615

2010

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OTHER NMDs

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S156

2021

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OTHER NMDs: EP.348 Can immunohistochemistry help narrow the differential diagnosis of myopathies with rimmed vacuoles?

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S156-S156

2021

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G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.556-556

2009

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P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S99-S99

2023

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CONGENITAL MYOPATHIES: GENERAL AND RYR1

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S44

2018

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CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.45A new congenital myopathy with multiple structured cores

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S44-S44

2018

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NEW GENES AND DISEASES: EP.301 The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S141-S142

2021

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Superfluid Fraction in an Interacting Spatially Modulated Bose-Einstein Condensate

A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis

Mapping Horizontal Spread of Activity in Monkey Motor Cortex Using Single Pulse Microstimulation

Decoding covert shifts of attention induced by ambiguous visuospatial cues

Handling Metadata in a Neurophysiology Laboratory

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Exome sequencing identifies a novel MYH7 mutation in a patient with nemaline myopathy and cardiomyopathy

Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1

A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy

Brain-computer interaction for online enhancement of visuospatial attention performance

G.P.269

ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

G.P.264

G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study

CONGENITAL MYOPATHIES: RYR1 AND TITIN: P.229Electron microscopy characterisation of triads in RYR1 rhabdomyolysis-myalgia syndrome

CONGENITAL MYOPATHIES: RYR1 AND TITIN

P1.47 Retrospective analysis of 309 muscle biopsies performed exclusively during the neonatal period

OTHER NMDs

OTHER NMDs: EP.348 Can immunohistochemistry help narrow the differential diagnosis of myopathies with rimmed vacuoles?

G.P.1.02 Phenotypic spectrum of core-rod myopathy caused by dominant or recessive RYR1 mutations

P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)

CONGENITAL MYOPATHIES: GENERAL AND RYR1

CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.45A new congenital myopathy with multiple structured cores

NEW GENES AND DISEASES: EP.301 The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions

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