Results 71 to 80 of about 103,930 (219)

Dilemmas in counselling females with the fragile X syndrome [PDF]

, 1999
The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less ...
Boer-van den Berg, H.M. van den, Niermeijer, M.F. (Martinus), Tibben, A. (Arend), Vries, B.B.A. (Bert) de   +3 more
core  

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

A Systematic Review of the Safety and Tolerability of Theta Burst Stimulation in Children and Adolescents

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Theta burst stimulation (TBS) is often used in clinical practice and research protocols for adults with neuropsychiatric disorders. There are substantial knowledge gaps related to the application of TBS in children and adolescents.
Rana Elmaghraby, Qi Sun, Can Ozger, Julia Shekunov, Magdalena Romanowicz, Paul E. Croarkin   +5 more
wiley   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

THE FRAGILE X SYNDROME

International Journal of Clinical Practice, 1994
SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire   +2 more sources

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

Movement Disorders, EarlyView.
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B. Anderson, Mariam Isayan, Kimberly Paquette, Sophia B. Gibson, Madison Fulcher, Abigail Miano‐Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J.P. Chaisson, Danny E. Miller, Pedro Chaná‐Cuevas, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley   +22 more
wiley   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source

Aging with the FMR1 Gene: A Life Course Perspective [PDF]

, 2017
Fragile X syndrome (FXS) is one of three syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other two conditions are Fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and ...
Lieb-Lundell, Cornelia
core   +1 more source

Analysis of Late Complications Associated With Hematopoietic Stem Cell Transplantation in Patients With Dyskeratosis Congenita

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Dyskeratosis congenita (DKC) is a genetic disorder frequently complicated by bone marrow failure (BMF). Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for BMF in DKC. However, late complications of DKC, especially pulmonary fibrosis (PF), pose significant challenges.
Takashi Koike, Shohei Yamamoto, Mayuko Shibata, Kohei Otsuka, Yumiko Sugishita, Ryota Kaneko, Naoko Kawabata, Sachio Fujita, Kosuke Akiyama, Daisuke Toyama, Miharu Yabe, Atsushi Uchiyama, Hiromasa Yabe   +12 more
wiley   +1 more source