Massimo Plumari

Pavia, Italy

Last Updated: 09/26/2026

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Found 13 publications

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations.

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations.

Journal: Molecular genetics & genomic medicine

Published: October 28, 2025

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.

Journal: American journal of medical genetics. Part A

Published: April 14, 2024

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Journal: Neuropediatrics

Published: February 16, 2024

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Journal: Clinical genetics

Published: January 12, 2024

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Journal: Archives of endocrinology and metabolism

Published: December 05, 2022

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.

Journal: American journal of medical genetics. Part A

Published: September 07, 2022

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Journal: Neurology. Genetics

Published: October 13, 2021

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: May 20, 2021

WITHDRAWN: Schuurs-Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation.

WITHDRAWN: Schuurs-Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation.

Journal: Brain & development

Published: November 19, 2020

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Journal: American journal of medical genetics. Part A

Published: April 20, 2020

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Journal: Human mutation

Published: November 06, 2017

Rediscovery and redescription of Laelaps lignicola G. & R. Canestrini, a remarkable myrmecophilous mite of the genus Cosmolaelaps Berlese (Acari: Mesostigmata: Laelapidae) from Italy.

Rediscovery and redescription of Laelaps lignicola G. & R. Canestrini, a remarkable myrmecophilous mite of the genus Cosmolaelaps Berlese (Acari: Mesostigmata: Laelapidae) from Italy.

Journal: Zootaxa

Published: February 15, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026