Results 181 to 190 of about 292,277 (304)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Resistance and resilience to Alzheimer's disease in Down syndrome. [PDF]

Alzheimers Dement
Boyle R, Koops EA, Ances B, Andrews EJ, Arenaza-Urquijo EM, Benjanin A, Brickman AM, Buckley RF, Clas GS, Costello E, Coughlan GT, Conley AC, Deng F, de Paula Faria D, Edwards N, Flores-Aguilar L, Fortea J, Ghazi Saidi L, Head E, Hom CL, Koenig K, Lao P, Lengyel I, Li YJ, Loi S, Loughrey D, McGlinchey E, Newhouse P, Pertierra L, Prokopiou PC, Qi Q, de Paula França Resende E, Russell J, Scanlon CE, Schneider C, Schultz SA, Seto M, Shaka S, Soldan A, Vaqué Alcázar L, Weng Y, Wilson JE, Zaman SH, Zsadányi SE, Hartley S.   +44 more
europepmc   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

High‐Fat and Low‐Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence).
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J. Simpson, Ralph Nanan   +4 more
wiley   +1 more source

"Are You Sick? No, I am Neurodivergent!" The Perilous Navigation Between Medicalization and Diagnostic Nihilism. [PDF]

Clin Neuropsychiatry
Troisi A.
europepmc   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source

Correction: Cytomorphological changes of oral mucosal cells among smokeless tobacco users in low and middle-income country settings: new findings from Pakistan. [PDF]

BMC Oral Health
Hassan S, Sifat A, Munib M, Saeed S, Nisa WU, Durrani SH, Rahim A, Ullah N, Afaq S, Khattak FA, Haq ZU.   +10 more
europepmc   +1 more source

Burden of disease in South Africa: Protracted transitions driven by social pathologies

, 2019
Debbie Bradshaw, Nadine Nannan, Victoria Pillay‐van Wyk, Ria Laubscher, Pam Groenewald, Rob Dorrington   +5 more
openalex   +2 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source