Results 81 to 90 of about 5,681 (206)

Replacing the immune system of the brain

eLife
A new method enables engineered immune progenitor cells to replace microglia in mice and reveals how a genetic mutation can lead to inflammation in the brain.
Julie Rebejac, Soyon Hong
doaj   +1 more source

Molecular Basis of Metachromatic Leukodystrophies

Pediatric Neurology Briefs, 1991
Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
doaj   +1 more source

Leukodystrophies: diseases of white matter of the nervous system

, 2007
Leukodystrophies are a group of rare, genetic diseases, which affect myelin, the major constituent of brain and spinal cord white matter. Patients suffer from numerous, progressive neurologic symptoms, which frequently cause death.
Gieselmann, V., Gärtner, Jutta, Kohlschuetter, Alfried   +2 more
core   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2114-2123, October 2026.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

, 2016
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known.
van der Knaap, Marjo S., Kevelam, Sietske H., Wolf, Nicole I., Kevelam, Sietske H, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Srivastava, Siddharth, van der Knaap, Marjo S, Wolf, Nicole I, Steenweg, Marjan E., Blaser, Susan, Vanderver, Adeline, Steenweg, Marjan E   +13 more
core   +1 more source

Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies

, 2022
Accumulation of intermediate metabolites due to enzyme deficiencies and demyelination can provoke inflammation in genetic leukodystrophies.
EROĞLU ERTUĞRUL, NESİBE GEVHER, Yousefi, Mohammadreza, Anlar, Banu, Vural, Atay, ÖZKARA, HATİCE ASUMAN, Pekguel, Faruk, Oguz, Kader K., Doran, Tansu, Guenbey, Ceren, TOPÇU, MERAL   +9 more
core   +1 more source

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +1 more source