Results 181 to 190 of about 3,646,381 (383)

Ectopic White Matter Neurons, a Developmental Abnormality That May Be Caused by thePSEN1S169L Mutation in a Case of Familial AD with Myoclonus and Seizures [PDF]

, 2001
Masaki Takao, Bernardino Ghetti, Jill R. Murrell, Frederick W. Unverzagt, Giorgio Giaccone, Fabrizio Tagliavini, Orso Bugiani, Pedro Piccardo, Christine M. Hulette, Barbara J. Crain, Martin R. Farlow, Albert Heyman   +11 more
openalex   +1 more source

An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report [PDF]

, 2021
Lucia Trevisan, Matteo Grazzini, Annalia Cianflone, Andrea Accogli, Cinzia Finocchi, Elisabetta Capello, Laura Saitta, Marina Grandis, Luca Roccatagliata, Paola Mandich   +9 more
openalex   +1 more source

Assessment of concurrent neoplasms and a paraneoplastic association in MOGAD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Cases of myelin oligodendrocyte glycoprotein (MOG) antibody‐associated disease (MOGAD) co‐occurring with neoplasms have been reported. In this international, retrospective cohort study in South Korea and the USA, 16 of 445 (3.6%) patients with MOGAD had concurrent neoplasm within 2 years of MOGAD onset, resulting in a standardized incidence ...
Young Nam Kwon, Nanthaya Tisavipat, Yong Guo, Stephanie B. Syc‐Mazurek, Ji Yeon Han, Jun‐Soon Kim, Kyomin Choi, Seong‐il Oh, Seok‐Jin Choi, Eunhee Sohn, Jeeyoung Oh, Seung Woo Kim, Ha Young Shin, Byung Chan Lim, Byoung Joon Kim, Kyung Seok Park, Jung‐Joon Sung, Se Hoon Kim, Sung‐Hye Park, Anastasia Zekeridou, Claudia F. Lucchinetti, Sean J. Pittock, John J. Chen, Eoin P. Flanagan, Sung‐Min Kim   +24 more
wiley   +1 more source

Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks [PDF]

, 2001
Yoshihiro Hotta
openalex   +1 more source

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report [PDF]

, 2022
Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti   +7 more
openalex   +1 more source

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

Hybridizing PSM and RSM Operator for Solving NP-Complete Problems: Application to Travelling Salesman Problem [PDF]

IJCSI International Journal of Computer Science Issues, Vol. 9, Issue 1, No 1, 2012, 374-378, 2012
In this paper, we present a new mutation operator, Hybrid Mutation (HPRM), for a genetic algorithm that generates high quality solutions to the Traveling Salesman Problem (TSP). The Hybrid Mutation operator constructs an offspring from a pair of parents by hybridizing two mutation operators, PSM and RSM.
arxiv  

Evidence for S284L Mutation of the CHRNA4 in a White Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy [PDF]

, 2003
Agata Różycka, Elżbieta Skorupska, Andrzej Kostyrko, Wiesław H. Trzeciak   +3 more
openalex   +1 more source

Evaluating white matter alterations in Parkinson’s disease-related parkin S/N167 mutation carriers using tract-based spatial statistics [PDF]

, 2022
Jinqiu Yu, Lina Chen, Guoen Cai, Ying-Qing Wang, Xiaochun Chen, Weimin Hong, Qinyong Ye   +6 more
openalex   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source