Results 121 to 130 of about 141,761 (297)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

PERCEPTIONS OF CANADIAN PHYSICIANS ON A COUNSELING INTERVENTION FOR PHYSICAL ACTIVITY

, 2003
Kevin S. Spink, K E. Chad, Bruce Reeder, Andrew Constantine, Storm J. Russell   +4 more
openalex   +1 more source

Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano   +7 more
wiley   +1 more source

Telephone Counseling Intervention Increases Intakes of Micronutrient- and Phytochemical-Rich Vegetables, Fruit and Fiber in Breast Cancer Survivors

, 2004
John P. Pierce, Vicky A. Newman, Shirley W. Flatt, Susan Faerber, Cheryl L. Rock, Loki Natarajan, Kathryn Hollenbach, L Wasserman, Sheila Kealey, Bette J. Caan, Ellen B. Gold, Lovell A. Jones, Cheryl Ritenbaugh, Marcia L. Stefanick, Cynthia A. Thomson   +14 more
openalex   +1 more source

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct [PDF]

, 2012
Aisha S. Sie, Liesbeth Spruijt, Wendy AG van Zelst-Stams, Arjen R. Mensenkamp, Marjolijn J. L. Ligtenberg, Han G. Brunner, Judith B. Prins, Nicoline Hoogerbrugge   +7 more
openalex   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

The effect of a livelihoods intervention in an urban slum in India: Do vocational counseling and training alter the attitudes and behavior of adolescent girls?

, 2004
Barbara Mensch, Monica J. Grant, Mary Sebastian, Paul Hewett, Dale Huntington   +4 more
openalex   +2 more sources

Randomized Controlled Trial of the Effectiveness of Genetic Counseling and a Distance, Computer-Based, Lifestyle Intervention Program for Adult Offspring of Patients with Type 2 Diabetes: Background, Study Protocol, and Baseline Patient Characteristics [PDF]

, 2012
Masakazu Nishigaki, Yuri Tokunaga-Nakawatase, Junko Nishida, Chiemi Taru, Ikuko Miyawaki, Hiromi Sanada, Kazuma Kishi   +6 more
openalex   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source