Paediatric‐onset hereditary spastic paraplegias: a retrospective cohort study-Reference-Cited by-同舟云学术

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Paediatric‐onset hereditary spastic paraplegias: a retrospective cohort study

Published:2020-04-10 Issue:9 Volume:62 Page:1068-1074
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Schiavoni Silvia¹,Spagnoli Carlotta¹^ORCID,Rizzi Susanna¹,Salerno Grazia G¹,Frattini Daniele¹,Pisani Francesco²,Fusco Carlo¹³

Affiliation:

1. Child Neurology Unit Department of Paediatrics Azienda USL‐IRCCS di Reggio Emilia Reggio EmiliaItaly

2. Child Neuropsychiatry Unit Neuroscience Division Medicine & Surgery Department University of Parma ParmaItaly

3. Paediatric Neurophysiology Laboratory Department of Paediatrics Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14547

Reference35 articles.

1. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

2. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

3. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

4. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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1. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia;Neurogenetics;2024-03-19

2. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants;Pediatric Neurology;2024-03

3. Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2023-07-07

4. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan;Frontiers in Neurology;2023-05-12

5. Importance of genetic testing for childhood‐onset hereditary spastic paraplegia;Developmental Medicine & Child Neurology;2022-09-27

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