Results 61 to 70 of about 307,217 (252)

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C., Dichgans, Martin, Schwab, S., Spranger, Matthias, Spranger, S.   +4 more
core   +1 more source

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Antioxidants
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti   +9 more
doaj   +1 more source

Evidence of Cerebellar Involvement in the Onset of a Manic State

Frontiers in Neurology, 2018
We described the cerebello-cerebral functional connectivity in a subject who developed a manic state after a cerebellar lesion. Whole brain investigation, performed by means of an advanced MRI examination, evidenced an isolated lesion involving the left ...
Michela Lupo, Giusy Olivito, Giusy Olivito, Libera Siciliano, Libera Siciliano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Mara Cercignani, Marco Bozzali, Marco Bozzali, Maria Leggio, Maria Leggio   +12 more
doaj   +1 more source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]

, 2016
The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique, Gonzalez-Lebrero, Rodolfo Martin, Roman, Ernesto Andres, Santos, Javier   +3 more
core   +1 more source

Fragile X-associated tremor/ataxia syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

Regional and age-dependent changes in ubiquitination in cellular and mouse models of Spinocerebellar ataxia type 3 [PDF]

, 2023
Haiyang Luo, Sokol V. Todi, Henry L. Paulson, Maria do Carmo Costa   +3 more
openalex   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

Nude man with locomotor ataxia walking with both arms up and down

, 2021
Unknown
openalex   +2 more sources

Effective connectivity analysis of resting-state mentalizing brain networks in spinocerebellar ataxia type 2: A dynamic causal modeling study

NeuroImage: Clinical
Neuroimaging studies on healthy subjects described the causal effective connectivity of cerebellar-cerebral social mentalizing networks, revealing the presence of closed-loops.
Giusy Olivito, Libera Siciliano, Maria Leggio, Frank Van Overwalle   +3 more
doaj   +1 more source