Results 211 to 220 of about 600,045 (285)

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Cerebellar Atrophy and Language Processing in Chronic Left-Hemisphere Stroke. [PDF]

Neurobiol Lang (Camb)
Newman-Norlund RD, Gibson M, Johnson L, Teghipco A, Rorden C, Bonilha L, Fridriksson J.   +6 more
europepmc   +1 more source

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study

, 2023
Kerestes R, Perry A, Vivash L, O’Brien TJ, Alvim MK, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH, the ENIGMA-Epilepsy Working Group.   +64 more
europepmc   +1 more source

Disease of South American camelids in England and Wales: Analysis of diagnoses from Animal and Plant Health Agency laboratory submissions between 2012 and 2021

Veterinary Record, EarlyView.
Abstract Background South American camelids (SACs) have become increasingly popular in the UK. Consequently, knowledge among veterinary practitioners about diseases in these non‐native species has improved, although gaps remain. The remit of this study was to identify common diseases of SACs based on Animal and Plant Health Agency (APHA) surveillance ...
Sonja Jeckel, Carissa Xian Chow, David Jorge   +2 more
wiley   +1 more source

A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait. [PDF]

Exp Anim
Yin J, Nick JA, Khare S, Kloefkorn HE, Gao M, Wu M, White J, Resnick JL, Allen KD, Nick HS, Waters MF.   +10 more
europepmc   +1 more source

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

American Journal of Human Genetics, 2015
K. Boycott, C. Beaulieu, K. Kernohan, O. Gebril, A. Mhanni, A. Chudley, D. Redl, Wen Qin, Sarah E. Hampson, S. Küry, M. Tétreault, E. Puffenberger, James N. Scott, S. Bézieau, A. Reis, S. Uebe, J. Schumacher, R. Hegele, D. R. Mcleod, Marina Gálvez-Peralta, J. Majewski, V. Ramaekers, D. Nebert, A. Innes, J. Parboosingh, R. Abou Jamra   +25 more
semanticscholar   +1 more source

Retinal neurovascular alterations are associated with optic radiation microstructure in adrenomyeloneuropathy: A susceptibility separation MRI study

VIEW, EarlyView.
In a cross‐sectional cohort of 104 participants, 7 T susceptibility separation MRI and diffusion imaging were combined with retinal imaging and visual evoked potentials to characterize visual pathway involvement in adrenomyeloneuropathy (AMN). Absolute diamagnetic susceptibility, a myelin‐associated measure, and fractional anisotropy (FA) showed ...
Ronghao Li, Jun Li, Chongyi Li, Xingang Wang, Wenyu Zhou, Yangcheng Zou, Zhiming Zhen, Li Xiao, Na Liang, Zongxing Zou, Junru Yang, Hui Yang, Chunhua Fu, Weiqi Chen, Yuyu Chen, Chen Liu, Hongjiang Wei, Liang Tan   +17 more
wiley   +1 more source

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Human Mutation, 2015
Jae-Ran Lee, M. Srour, Doyoun Kim, F. Hamdan, So-Hee Lim, C. Brunel-Guitton, J. Décarie, E. Rossignol, Grant A. Mitchell, A. Schreiber, R. Moran, K. V. van Haren, R. Richardson, J. Nicolai, Karin M. E. J. Oberndorff, J. Wagner, K. Boycott, Elisa J. Rahikkala, N. Junna, H. Tyynismaa, I. Cuppen, N. Verbeek, C. Stumpel, M. Willemsen, S. de Munnik, Guy A. Rouleau, Eunjoon Kim, E. Kamsteeg, T. Kleefstra, Jacques L. Michaud   +29 more
semanticscholar   +1 more source

Associations of cannabis use, tobacco use and co‐use with brain volume: A systematic review and meta‐analysis

Addiction, EarlyView.
Abstract Background and aims Cannabis is the most widely used illicit drug worldwide and is often co‐used with tobacco, the leading cause of preventable death. Although cannabis and tobacco have distinct neurobiological actions, their associations with brain volumes are unclear.
Katherine Sawyer, Tom P. Freeman, Martine Skumlien, Esther Walton, Thomas Lancaster, Jorien L. Treur, Valentina Lorenzetti, Anna K. M. Blackwell, Chloe Burke, Richie J. Carr, Constantinos Constantinides, Maisie Cox, Sarah Dance, Shadi Daryan, Sorcha Hamilton, Tom Jenkins, Gemma M. J. Taylor   +16 more
wiley   +1 more source

A Case of Personality and Behavioral Changes with Frontotemporal and Cerebellar Atrophy on MRI with Corresponding Hypometabolism on FDG-PET. [PDF]

Case Rep Psychiatry
Selig M, Lee G, Lebowitz B, Franceschi D, Absar N.   +4 more
europepmc   +1 more source