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Content Provider : Complementary Index Publication : journal of neurology Subject : genetic mutation Subject : nucleotide sequencing Filter by : Keyword

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Academic Journal

DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.

Authors : Stoker, Thomas B.; Dostal, Vaclav; Cochius, Jeffrey

Subjects: PROGRESSIVE supranuclear palsy; MOVEMENT disorders; PARKINSONIAN disorders

Source: Journal of Neurology; Dec2022, Vol. 269 Issue 12, p6667-6672, 6p

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Academic Journal

Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Authors : Sato, Kazunori; Yabe, Ichiro; Yaguchi, Hiroaki

Subjects: FAMILIES; EYE paralysis; PARKINSONIAN disordersJAPAN

Source: Journal of Neurology; Jul2011, Vol. 258 Issue 7, p1327-1332, 6p, 1 Color Photograph, 1 Black and White Photograph, 1 Graph

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Academic Journal

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Authors : Giannoccaro, Maria; Bartoletti-Stella, Anna; Piras, Silvia

Subjects: FAMILY health; GENETICS of amyotrophic lateral sclerosis; FRONTOTEMPORAL dementia

Source: Journal of Neurology; Jul2017, Vol. 264 Issue 7, p1426-1433, 8p, 1 Diagram, 3 Charts

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Academic Journal

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Authors : Ghanim, Mustapha; Guillot-Noel, Léna; Pasquier, Florence

Subjects: GENETIC mutation; DEGENERATION (Pathology); GENEALOGYFRANCE

Source: Journal of Neurology; Dec2010, Vol. 257 Issue 12, p2032-2036, 5p

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Academic Journal

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.

Authors : Rabe, Malessa; Felbecker, Ansgar; Waibel, Stefan

Subjects: AMYOTROPHIC lateral sclerosis; SUPEROXIDE dismutase; GENETIC mutationGERMANY

Source: Journal of Neurology; Aug2010, Vol. 257 Issue 8, p1298-1302, 5p, 1 Chart, 1 Map

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Academic Journal

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

Authors : Sung-Min Kim; Jeong-Seon Lee; Suhyun Kim

Subjects: PARAPLEGIA; CORPUS callosum abnormalities; GENETIC mutation

Source: Journal of Neurology; Oct2009, Vol. 256 Issue 10, p1714-1718, 5p, 2 Graphs

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Academic Journal

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Authors : Criscuolo, Chiara; Filla, Alessandro; Coppola, Giovanni

Subjects: PARAPLEGIA; SPASTICITY; BRAIN imaging

Source: Journal of Neurology; Aug2009, Vol. 256 Issue 8, p1252-1257, 6p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph

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Academic Journal

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.

Authors : Bonati, Maria Teresa; Combi, Romina; Asselta, Rosanna

Subjects: BRAIN diseases; DEVELOPMENTAL disabilities; NEUROTRANSMITTERS

Source: Journal of Neurology; Aug2002, Vol. 249 Issue 8, p967-974, 8p

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Academic Journal

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

Authors : Patrono, Clarice; Casali, Carlo; Tessa, Alessandra

Subjects: PARAPLEGIA; FAMILIES; GENETIC mutationITALY

Source: Journal of Neurology; Feb2002, Vol. 249 Issue 2, p200-205, 6p

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Academic Journal

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

Authors : Karkheiran, Siamak; Krebs, Catharine; Darvish, Hossein

Subjects: PATHOGENIC microorganisms; GENETIC mutation; PARKINSON'S disease patients

Source: Journal of Neurology; Jun2014, Vol. 261 Issue 6, p1223-1226, 4p

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