Results 191 to 200 of about 944,231 (329)

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source

Hereditary thrombocytopenias: the challenge of increasing frequency and differential diagnosis. [PDF]

Hematol Transfus Cell Ther
Çiftçiler R.
europepmc   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists. [PDF]

J Med Genet
Aul RB, Canales KE, De Bie I, Laberge AM, Langlois S, Nelson TN, Walji S, Yu AC, Lazier J, Canadian College of Medical Geneticists, Canadian College of Medical Geneticists .   +10 more
europepmc   +1 more source

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
wiley   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 4 [PDF]

, 1977

core   +1 more source

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

American Journal of Human Genetics, 1999
Annick Cabot, J. Rozet, S. Gerber, I. Perrault, D. Ducroq, A. Smahi, E. Souied, Arnold Munnich, J. Kaplan   +8 more
semanticscholar   +1 more source

Multi‐Omics Integration for Advancing Glioma Precision Medicine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia, Valentina La Cognata, Giulia Gentile, Giovanna Morello, Sebastiano Cavallaro   +4 more
wiley   +1 more source

X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and Review of the Literature. [PDF]

Cureus
Laranja S, Piscalho I, Caetano M, Coelho I, Gaspar L, Virtuoso MJ.   +5 more
europepmc   +1 more source

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

American Journal of Human Genetics, 1998
F. Kyndt, J. Schott, J. Trochu, Florence Baranger, Odile Herbert, Valérie Scott, Edith Fressinaud, Albert David, Jean-Paul Moisan, Jean-Brieuc Bouhour, H. Marec, Bernard Bénichou   +11 more
semanticscholar   +1 more source