Strokelike Episodes in <i>PMM-2</i> Carriers Differ from Those in Mitochondrial Disorders

Strokelike Episodes in <i>PMM-2</i> Carriers Differ from Those in Mitochondrial Disorders

Saved in:

Bibliographic Details
Main Author:	Finsterer Finsterer
Format:	Article
Language:	English
Published:	KeAi Communications Co., Ltd. 2023-09-01
Series:	Global Medical Genetics
Online Access:	http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1771183
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Before diagnosing stroke-like episodes in OPA1-related mitochondrial disorder, its imaging criteria must be met
by: Josef Finsterer
Published: (2025-09-01)

Before interpreting catatonia as secondary to bipolar 1 disorder current episode with peripartum onset, all other causes should be carefully excluded
by: João Gama-Marques, et al.
Published: (2025-04-01)

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG
by: Renata Mangione, et al.
Published: (2025-05-01)

Correlation between Post-Traumatic Stress Disorder and SARS-CoV-2 Infection
by: Sounira Mehri, et al.
Published: (2025-02-01)

Modeling working processes of the marine thruster of the PMM-2M ferry-bridge machine
by: A. V. Mesropyan, et al.
Published: (2020-10-01)

The pathogenicity of variant c.597dup in <i>SLC19A3</i> and treatability of its phenotype remain unconfirmed
by: Josef Finsterer, et al.
Published: (2024-04-01)

A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses
by: Tiago Oliveira, et al.
Published: (2025-04-01)

To assess the differences between thymoma patients with/without myasthenia all of their characteristics must be considered
by: Josef Finsterer
Published: (2024-10-01)

WCN25-63 Refractory Nephrotic Syndrome in Focal and Segmental Glomerulosclerosis by PMM2 Genetic Variant
by: Jaime Arturo Dulce M, et al.
Published: (2025-02-01)

Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population
by: Asghar Shayannia, et al.
Published: (2025-05-01)

An improvement of the safety profile of SARS‐CoV‐2 vaccines is desirable
by: Josef Finsterer
Published: (2024-10-01)

Before blaming severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as trigger of new-onset ocular myasthenia, alternative etiologies must be ruled out
by: Josef Finsterer
Published: (2024-10-01)

SARS-CoV-2 related encephalitis requires documentation of the virus in the cerebrospinal fluid
by: Josef Finsterer
Published: (2022-12-01)

Headache, cataract, and unilateral visual loss: unusual features of DARS2 variants in LBSL
by: Josef Finsterer
Published: (2021-02-01)

Previous immunological disease can promote neurological complications of SARS-CoV-2 infection, such as VST or GBS
by: Josef Finsterer
Published: (2025-12-01)

PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
by: N. Sreedevi, et al.
Published: (2023-06-01)

Comments on “The Use of tDCS in a Patient with MECP2 Gene Mutation Presenting with Recurrent Catatonia: A Case Report”
by: Josef Finsterer
Published: (2024-11-01)

Before a Diagnosis of Schizophreniform Disorder is Made, All Causes of Secondary Psychosis Should Be Ruled Out
by: João Gama Marques, et al.
Published: (2025-03-01)

Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder
by: Josef Finsterer, et al.
Published: (2019-01-01)

Autonomic Complications of Seizures and Migraines
by: Josef Finsterer
Published: (2025-03-01)

The impact of COVID-19 on the well-being of general practitioners and trainees is multifacated and requires intensive diagnostic efforts
by: Josef Finsterer
Published: (2025-07-01)

Pembrolizumab‐Induced Secondary Hypocorticism Manifesting as a Transitory Ischemic Attack
by: Josef Finsterer
Published: (2025-02-01)

Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome
by: Josef Finsterer
Published: (2025-04-01)

Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven
by: Josef Finsterer
Published: (2025-06-01)

Syphilitic Myelitis is not Rare and is Usually Associated with Cerebral Manifestations of the Infection
by: Josef Finsterer

Comment on ‘Quantification of Skeletal Muscle at the First Lumbar Level for Prognosis in Amyotrophic Lateral Sclerosis’ by Cao et al.
by: Josef Finsterer
Published: (2025-08-01)

Before executive dysfunction is attributed to fibromyalgia, other causes must be thoroughly ruled out
by: Josef Finsterer
Published: (2025-04-01)

Duchenne muscular dystrophy requires treatment also of cardiac, respiratory, cerebral, and orthopedic compromise
by: Josef FINSTERER

Insomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope
by: Josef Finsterer
Published: (2025-04-01)

There is no clear epileptic heart syndrome, but there are various cardiac complications following seizures
by: Josef Finsterer
Published: (2024-01-01)

Before a fluctuating unilateral ptosis can be attributed to ipsilateral midbrain stroke, alternative etiologies must be thoroughly excluded
by: Josef Finsterer
Published: (2025-01-01)

Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF
by: Josef Finsterer
Published: (2020-01-01)

The Diagnosis of Signal Recognition Particle-Associated Immune-Mediated Necrotizing Myopathy Requires the Exclusion of Possible Differential Diagnose
by: Josef Finsterer
Published: (2025-01-01)

The m.3243A>G variant affects not only islet, hair, or retinal ganglion cells, but all cells
by: Finsterer, Josef
Published: (2025-05-01)

Depression, anxiety, stress, and well-being in fringe groups
by: Josef Finsterer
Published: (2024-12-01)

Is transcranial direct current stimulation really beneficial for frontotemporal dementia?
by: Josef Finsterer
Published: (2024-12-01)

The Diagnosis of Signal Recognition Particle-Associated Immune-Mediated Necrotizing Myopathy Requires the Exclusion of Possible Differential Diagnose
by: Josef Finsterer
Published: (2025-03-01)

Unimpaired vision is an indispensable prerequisite for safe driving
by: Josef Finsterer
Published: (2024-12-01)

Entero-encephalopathy due to FBXL4-related mtDNA depletion syndrome
by: Josef Finsterer
Published: (2021-10-01)

Coffee and tea are unlikely to be risk factors or preventers of Alzheimer's disease or vascular dementia
by: Josef Finsterer
Published: (2025-02-01)