Results 151 to 160 of about 3,349,140 (303)

Complex de novo structural variants are an underestimated cause of rare disorders. [PDF]

Nat Commun
Jung H, Yang TP, Walker S, Danecek P, Garcia-Salinas OI, Neville MDC, Christopher J, Cortés-Ciriano I, Firth H, Scally A, Hurles M, Campbell P, Rahbari R.   +12 more
europepmc   +2 more sources

Editorial - Diagnostic genome sequencing in rare disorders. [PDF]

Med Genet, 2023
Krawitz P, Haack TB.
europepmc   +1 more source

Rare Disorder [PDF]

, 2020
openaire   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Author Correction: Quantification of early learning and movement sub-structure predictive of motor performance

Scientific Reports, 2021
Vikram Jakkamsetti, William Scudder, Gauri Kathote, Qian Ma, Gustavo Angulo, Aksharkumar Dobariya, Roger N. Rosenberg, Bruce Beutler, Juan M. Pascual   +8 more
doaj   +1 more source

Rare Disorder [PDF]

Nature, 1969
openaire   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Conference round-up: "A common international standard for rare materials? Why? And how?" (22 February 2016, Lisbon)

, 2016
A view from the speaker's podium, at the start of the IFLA RBSCS's "A common international standard for rare materials? Why? And how?" conference, 22 February 2016, Biblioteca Nacional de Portugal On the 22nd of February 2016, the IFLA Rare Books and ...
IFLA Rare Books & Special Collections Section
core  

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders. [PDF]

Eur J Hum Genet
Low KJ, Foreman J, Hobson RJ, Kwuo H, Martinez-Cayuelas E, Almoguera B, Marin-Reina P, Caraffi SG, Garavelli L, Woods E, Balasubramanian M, Bayat A, Ockeloen CW, Wright CM, Firth HV, Cole TJ.   +15 more
europepmc   +2 more sources