Results 221 to 230 of about 1,726,734 (274)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Neurology: neurologic manifestations of AIDS.

The Western journal of medicine, 2010
openaire   +1 more source

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Neurologic Manifestations of Blood Dyscrasias

Hematology/Oncology Clinics of North America, 2016
Neurologic manifestations are common in blood diseases, and they can be caused by the hematologic disorder or its treatment. This article discusses hematologic diseases in adult patients, and categorizes them into benign and malignant conditions. The more common benign hematologic diseases associated with neurologic manifestations include anemias ...
Daniel R, Couriel, Holly, Ricker, Mary, Steinbach, Catherine J, Lee   +3 more
openaire   +3 more sources

Neurologic Manifestations and Complications of COVID-19.

Annual Review of Medicine, 2021
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has created a global pandemic. Beyond the well-described respiratory manifestations, SARS-CoV-2 may cause a variety of neurologic complications, including headaches, alteration in taste and ...
M. Hensley, Desiree M. Markantone, H. Prescott   +2 more
semanticscholar   +1 more source

Neurological Manifestations of Aging

Journal of Gerontology, 1977
A group of 51 socially active, self-declared neurologically normal subjects ranging from 61 to 84 years of age were studied with a battery of clinical neurological examinations and a semiquantitative vibration perception test. None of the subjects showed a consistent pattern of neurological deficit that could be identified as pathological. On review of
E, Kokmen, R W, Bossemeyer, J, Barney, W J, Williams   +3 more
openaire   +2 more sources

Neurologic Manifestations of Sarcoidosis

Neurologic Clinics, 2002
Sarcoidosis is multisystem granulomatous disease of unknown etiology. Although the nervous system is involved in only 5% to 16% of patients, neurosarcoidosis is one of the more serious manifestations of the disease. Cranial neuropathies are common, but involvement of the mininges or the brain or spinal cord parenchyma causes more severe morbidity.
Dakshinamurty, Gullapalli, Lawrence H, Phillips   +1 more
openaire   +2 more sources

Neurological Manifestations in Otolaryngology

Archives of Otolaryngology - Head and Neck Surgery, 1961
To appreciate the protean manifestations of neurologic, and the frequently related emotional, disorders affecting the head and neck areas, is to realize the morphological complexity of the human mechanism and its susceptibility to a wide range of disturbing experiences.
F L, LEDERER, E M, SKOLNIK
openaire   +2 more sources