Acute Ophthalmoplegia with Wernicke‐Like <scp>MRI</scp> Pattern in a Patient with <scp><i>HPDL</i></scp>‐Related Disorder-Reference-Cited by-同舟云学术

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Acute Ophthalmoplegia with Wernicke‐Like MRI Pattern in a Patient with HPDL‐Related Disorder

Published:2024-06-28 Issue:9 Volume:11 Page:1160-1162
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Sartorelli Jacopo¹,Longo Daniela²,Travaglini Lorena³,Orlando Valeria³,D'Amico Adele¹,Bertini Enrico¹,Nicita Francesco¹

Affiliation:

1. Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Neuroradiology Unit, Imaging Department Bambino Gesù Children's Hospital, IRCCS Rome Italy

3. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS Rome Italy

Funder

Ministero della Salute

Publisher

Wiley

Reference11 articles.

1. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

2. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

3. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

4. Case Report: Two Families With HPDL Related Neurodegeneration

5. Novel bi‐allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient

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