Results 171 to 180 of about 269,697 (252)

Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes. [PDF]

HGG Adv
Nkrumah E, Al-Mulla H, Bashar A, Soman V, Saad C, Wang J, Darabi H, Yatsenko SA, Rajkovic A, Chandran U, Mbarek H, Aarabi M.   +11 more
europepmc   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes. [PDF]

Eye (Lond)
Balbirsingh V, Hashem SA, Georgiou M, Lin S, Arno G, Moosajee M, Webster AR, Michaelides M, Mahroo OA.   +8 more
europepmc   +1 more source

Case Report: Acute angle-closure glaucoma as the initial presentation of autosomal recessive bestrophinopathy caused by compound heterozygous <i>BEST1</i> mutations. [PDF]

Front Med (Lausanne)
Lu R, Zhou L, Tang L, Li X, Cao G.
europepmc   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature. [PDF]

Clin Transl Immunology
Anderson H, Verryt C, Keating P, Saunders T, Dalton S, Hock BD, Goddard L, Drake K, Werno A, O'Donnell J, Stinson JR, Snow AL, Hsiao KC.   +12 more
europepmc   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy. [PDF]

J Neuromuscul Dis
El-Hayek S, Rad A, Sedighzadeh S, Yesil G, Sabbagh S, Shahrooei M, Nair P, Gedikbaşı A, Bizzari S, Ali M, Chouery E, Mehawej C, Aslanger A, Rohani P, Sharifzadeh M, Akbas S, Mohammadi-Asl J, Behnam M, Corbani S, Karaman V, Yiş U, Oktay Y, Polat I, Urtizberea JA, Houlden H, Maroofian R, Oprea G, Megarbane A.   +27 more
europepmc   +1 more source

Neuropsychiatric‐Led Presentation of Late‐Onset Parkin‐Related Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Sarah Fullam, Shane Lyons, Martha Finnegan, Richard Walsh, Sean O'Dowd   +4 more
wiley   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source