G. Brandberg

Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents.

R. Raininko, O. Eeg‐Olofsson, G. Brandberg, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

A. Verloes, P. Uldall, S. Manouvrier-Hanu, 2014, American journal of medical genetics. Part A.

3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

E. Holme, L. Hagenfeldt, U. von Döbeln, 1990, The Journal of pediatrics.

Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant).

L. Wiklund, J. Månsson, M. Kyllerman, 2002, Neuropediatrics.

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

L. Feuk, P. Georgii‐Hemming, Jonatan Halvardson, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in HECW2 are associated with intellectual disability and epilepsy

L. Feuk, P. Georgii‐Hemming, Jonatan Halvardson, 2016, Journal of Medical Genetics.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

J. Lundeberg, H. Blom, Magnus K. Bjursell, 2011, American journal of human genetics.

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

C. Gillberg, C. Betancur, E. Green, 2001, American journal of medical genetics.

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

N. Darín, E. Holmberg, M. Tulinius, 2006, Neuromuscular Disorders.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .