Ashraf Yahia

Karolinska Institutet

Sweden

This profile is automatically generated from trusted academic sources.

Google Scholar

ORCID

How do I reach out?

Meet Kite AI

Contact this professor

ORCID

Google Scholar

Research Interests

Neurology

80%

Neuropsychology

10%

Medical Science

100%

Rare Disease

70%

Neurodegenerative Disease

50%

Neurodevelopmental Disorders

30%

Exome Sequencing

30%

Ask ApplyKite AI

Start chatting

How can you help me contact this professor?

What are this professor's research interests?

How should I write an email to this professor?

Articles11

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

Article Link

Year:

2024

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Article Link

Year:

2023

Consanguinity and willingness to perform premarital genetic screening in Sudan

Article Link

Year:

2023

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Article Link

Year:

2023

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

Article Link

Year:

2022

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

Article Link

Year:

2021

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.

Article Link

Year:

2021

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

Article Link

Year:

2021

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.

Article Link

Year:

2021

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.

Article Link

Year:

2021

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.

Article Link

Year:

2020

Collaborators5

Antonio Amorim

Prof.

University of Porto

PORTUGAL

Imen DORBOZ

FRANCE

Zulfa Omer

Assistant Professor, Hematology and Medical Oncology division

UNITED STATES

Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

Alexandra Durr

Professor, MD, PhD,

Sorbonne Université

FRANCE

How do I reach out?

Meet Kite AI