Heike Kölbel - Dissemin

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All papers authored by Heike Kölbel

This paper is made freely available by the publisher.

2022 Heike Kölbel

ORCID

, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

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This paper is made freely available by the publisher.

Heike Kölbel

ORCID

, Florian Kraft

ORCID

, Andreas Hentschel, Artur Czech, Andrea Gangfuss

ORCID

, Payam Mohassel

ORCID

, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

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This paper is made freely available by the publisher.

2020 Heike Kölbel

ORCID

, Andreas Roos, Peter F. M. Ven

ORCID

, Teresinha Evangelista, Kay Nolte, Katherine Johnson, Ana Töpf, Michael Wilson, Wolfram Kress, Albert Sickmann, Volker Straub, Laxmikanth Kollipara, Joachim Weis

ORCID

, Dieter O. Fürst, Ulrike Schara

First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC

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