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Christiane Neuhofer

3PUBLICATIONS

27CO-AUTHORS

Neurology and neuromuscular diseasesCell and nuclear division

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Publications (3)

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|Aug 18, 2020

<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Christiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt

|Feb 12, 2020

Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegeneration.

Claudia Stendel, Christiane Neuhofer, Elisa Floride

|Jan 31, 2020

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Giulia Ascari, Frank Peelman, Pietro Farinelli

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Frequent Collaborators

2 joint publications

Thomas Klopstock

1 joint publications

Claudia B Catarino

1 joint publications

Heinrich Schmidt

1 joint publications

Bader Alhaddad

1 joint publications

Giulia Ascari

1 joint publications

Frank Peelman

1 joint publications

Pietro Farinelli

1 joint publications

Toon Rosseel

1 joint publications

Nina Lambrechts

1 joint publications

Kirsten A Wunderlich

Frequent Collaborators

2 joint publications

Thomas Klopstock

1 joint publications

Claudia B Catarino

1 joint publications

Heinrich Schmidt

1 joint publications

Bader Alhaddad

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