Emmanuelle Schmitt

Researcher

Lyon College

faculty

6 h-index 39 pubs 643 cited

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OverviewAI-generated summary

Dr. Emmanuelle Schmitt's work focuses on the genetic underpinnings and clinical manifestations of hereditary neurological disorders. Her research spans a range of conditions, from spastic paraplegia to epilepsy, and also includes investigations into glioma diagnosis and treatment. Schmitt's work has illuminated the genetic causes of various neurological conditions, as evidenced by publications detailing biallelic variants in *HPDL* and the phenotypic spectrum of autosomal dominant MPAN. Recent work has also explored the reduced penetrance of specific mutations in relation to clinical presentation and brain imaging findings, as well as syndromic presentations of MAST1-related disorders. Additionally, Schmitt contributes to research on patient safety, medication errors, and treatment outcomes for neurological conditions such as medulloblastoma in young children.

Metrics

h-index: 6
Publications: 39
Citations: 643

Selected Publications

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography (2025) DOI
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A (2024) DOI
Comment je fais (ou pas) une IRM à un patient porteur d’un implant auditif ? (2024) DOI
Megalencephaly secondary to a novel germline missense variant <scp>p.Asp322Tyr</scp> in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report (2024) DOI
MAST1-related mega-corpus-callosum syndrome with central hypogonadism (2023) DOI
Autosomal Dominant <scp>MPAN</scp>: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes (2023) DOI
Neurocognitive and radiological follow-up of children under 5 years of age treated for medulloblastoma according to the HIT-SKK protocol (2023) DOI
Susceptibility weighted imaging for ruptured basilar artery perforator aneurysms in the setting of angiographically negative subarachnoid hemorrhage (2022) DOI
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET (2022) DOI
MEDB-13. Neurocognitive and radiological follow-up of children under 5 years of age treated for medulloblastoma according to the HIT-SKK protocol (2022) DOI
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (2021) DOI
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (2021) DOI