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Publications by Adriana P. Rebelo

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics
Genetics
2019English

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Journal of Neuromuscular Diseases
Neurology
2019English

Related publications

Truncating Mutations inSPASTpatients Are Associated With a High Rate of Psychiatric Comorbidities in Hereditary Spastic Paraplegia

Journal of Neurology, Neurosurgery and Psychiatry
PsychiatryMental HealthNeurologySurgery
2017English

Hereditary Spastic Paraplegia

Schweizer Archiv für Neurologie und Psychiatrie
2001English

Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

European Journal of Human Genetics
Genetics
2000English

Structural Consequences of Hereditary Spastic Paraplegia Disease-Related Mutations in Kinesin

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2018English

Hereditary Spastic Paraplegia-Causing Mutations in Atlastin-1 Interfere With BMPRII Trafficking

Molecular and Cellular Neurosciences
Molecular NeuroscienceMolecular BiologyCell BiologyCellular
2013English

Extensive in Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A

Scientifica
AgriculturalEnvironmental ScienceBiological Sciences
2020English

Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)

BMC Medical Genetics
Genetics
2008English

Hereditary Ataxia and Spastic Paraplegia in Portugal

JAMA Neurology
Neurology
2013English

Hereditary Spastic Paraplegia Type 8 - Neuropathological Findings

Brain Pathology
Forensic MedicineNeurosciencePathologyNeurology
2018English

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