Results 141 to 150 of about 283,514 (342)

Handwriting analysis for diagnosis and prognosis of Parkinson’s disease [PDF]

, 2010
At present, there are no quantitative, objective methods for diagnosing the Parkinson disease. Existing methods of quantitative analysis by myograms suffer by inaccuracy and patient strain; electronic tablet analysis is limited to the visible drawing ...
Brause, Rüdiger W., Krakow, Karsten, Ünlü, Atilla   +2 more
core  

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 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

Resting and action tremor in Parkinson’s disease: pathophysiological insights from long-term STN-DBS

npj Parkinson's Disease
Tremor is a well-recognized sign of Parkinson’s disease (PD), yet its long-term evolution remains unclear, particularly regarding the relationship between resting and action tremor.
Alessandro Zampogna, Antonio Suppa, Martina Patera, Francesco Cavallieri, Francesco Bove, Valerie Fraix, Anna Castrioto, Emmanuelle Schmitt, Pierre Pelissier, Stephan Chabardes, Sara Meoni, Elena Moro   +11 more
doaj   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

A review of recent activities in the NASA CELSS program [PDF]

A CELSS (Controlled Ecological Life Support System) is a device that utilizes photosynthetic organisms and light energy to regenerate waste materials into oxygen and food for a crew in space.
Knott, W., Macelroy, R. D., Prince, R. P., Smernoff, D. T., Tremor, J.   +4 more
core   +1 more source

Existing motor state is favored at the expense of new movement during 13-35 Hz oscillatory synchrony in the human corticospinal system [PDF]

, 2005
Oscillations in local field potentials in the β-frequency band (13-35 Hz) are a pervasive feature of human and nonhuman primate motor cortical areas. However, the function of such synchronous activity across populations of neurons remains unknown.
B, B, Di, L, Doyle, L, Gilbertson, T, Lalo, E, P, ., V, C   +6 more
core  

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

Annals of Neurology, EarlyView.
Objective Pre‐mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co‐pathologies. This study aimed to develop a machine learning‐based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored.
Daisuke Ono, Hiroaki Sekiya, Alexia R. Maier, Neill R. Graff‐Radford, Zbigniew K. Wszolek, Dennis W. Dickson   +5 more
wiley   +1 more source

Report of the 1st Planning Workshop for CELSS Flight Experimentation [PDF]

A workshop held March 23 and 24, 1987 to establish a base upon which a CELSS flight experiment program will be developed, is summarized. The kind of information necessary for productivity assessment was determined.
Macelroy, Robert D., Tremor, John W.
core   +1 more source