Beatrice Bocquet Selected Research

CAPOS syndrome

2/2018	The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
1/2018	Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

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Beatrice Bocquet Research Topics

Disease

2	Auditory neuropathy 02/2018 - 01/2018
2	CAPOS syndrome 02/2018 - 01/2018
1	Low Vision (Subnormal Vision) 01/2022
1	Blue cone monochromatism 01/2022
1	Hearing Loss (Hearing Impairment) 02/2018
1	Cerebellar Ataxia (Dysmetria) 02/2018
1	Optic Atrophy 02/2018
1	Talipes Cavus (Pes Cavus) 02/2018
1	Retinal Dystrophies 01/2013
1	Optic Nerve Diseases (Optic Neuropathy) 01/2013
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2013
1	Rare Diseases (Rare Disease) 01/2013
1	Vascular Diseases (Vascular Disease) 04/2007
1	Inflammation (Inflammations) 04/2007

Drug/Important Bio-Agent (IBA)

2	Retinaldehyde (Retinal)IBA 01/2022 - 01/2013
2	Adenosine Triphosphatases (ATPase)IBA 02/2018 - 01/2018
1	IonsIBA 01/2013
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 04/2007
1	SphingolipidsIBA 04/2007
1	EnzymesIBA 04/2007
1	FurinIBA 04/2007
1	Matrix Metalloproteinase 14 (MT1-MMP)IBA 04/2007
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 04/2007

Therapy/Procedure

1	Cochlear Implantation 02/2018
1	Hearing Aids (Hearing Aid) 02/2018