List of works - Martino Montomoli

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

scientific article published on 28 October 2017

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

scientific article published on 14 March 2018

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

scientific article published on 19 November 2016

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

scientific article

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Neuroimaging in mitochondrial disorders

scientific article published on 20 July 2018

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

scientific article

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

List of works by Martino Montomoli

Basal ganglia dysmorphism in patients with Aicardi syndrome

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Lessons learned from 40 novel PIGA patients and a review of the literature

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Neuroimaging in mitochondrial disorders

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

The phenotype of SCN8A developmental and epileptic encephalopathy

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy