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List of works by Knut Brockmann

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

scientific article published on 15 October 2010

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

scientific article published on 07 October 2020

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

scientific article published on 28 October 2020

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

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