(Q38139259)

29 August 2017

1 reference

title

The genetics of primary torsion dystonia (English)

1 reference

29 August 2017

U Müller

1

1 reference

29 August 2017

K G Kupke

series ordinal

2

1 reference

29 August 2017

publication date

1 January 1990

1 reference

29 August 2017

1 reference

29 August 2017

volume

84

1 reference

29 August 2017

issue

2

1 reference

29 August 2017

page(s)

107-115

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00208922

29 August 2017

exact match

0 references

cites work

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms

1 reference

12 December 2020

Familial dystonia and visual failure with striatal CT lucencies

1 reference

12 December 2020

Delayed onset dystonia following hemiplegic migraine

1 reference

12 December 2020

1 reference

12 December 2020

Dystonia--L-dopa responsive or juvenile parkinsonism?

1 reference

12 December 2020

Dopamine-β-hydroxylase (DBH) in idiopathic torsion dystonia (ITD)

1 reference

12 December 2020

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

1 reference

12 December 2020

Hereditary torsion dystonia in gypsies

1 reference

12 December 2020

Hemi-dystonia secondary to localised basal ganglia tumour

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease

1 reference

12 December 2020

Molecular genetics of an autosomal dominant form of torsion dystonia

1 reference

12 December 2020

Hereditary dystonia-parkinsonism syndrome of juvenile onset

1 reference

12 December 2020

Munchausen's syndrome simulating torsion dystonia

1 reference

12 December 2020

Ventricular fluid homovanillic acid and 5-hydroxyindoleacetic acid concentrations in patients with movement disorders

1 reference

12 December 2020

Reverse genetics and human disease

1 reference

12 December 2020

Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies

1 reference

12 December 2020

Plasma norepinephrine and dopamine-beta-hydroxylase in dystonia

1 reference

12 December 2020

1 reference

12 December 2020

Idiopathic dystonia musculorum deformans. I. The hereditary pattern

1 reference

12 December 2020

Spontaneous remissions in spasmodic torticollis

1 reference

12 December 2020

Familial progressive dystonia with diurnal fluctuation. Case report. Remarkable therapeutic effect of 1-dopa (author's transl)

1 reference

12 December 2020

Dystonia of the legs induced by walking or passive movement of the big toe in a patient with cerebellar ectopia and syringomyelia.

1 reference

12 December 2020

Hartnup disease. Clinical, pathological, and biochemical observations

1 reference

12 December 2020

Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations.

1 reference

12 December 2020

Carbamazepine-Induced Dystonia

1 reference

12 December 2020

Torsion dystonia in Israel

1 reference

12 December 2020

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

1 reference

12 December 2020

Elevated Plasma Dopamine-β-Hydroxylase Activity in Autosomal Dominant Torsion Dystonia

1 reference

12 December 2020

Dystonia and calcification of the basal ganglia

1 reference

12 December 2020

Anatomy of the basal ganglia and related nuclei: a review.

1 reference

12 December 2020

[5 cases of dystonia with marked diurnal fluctuation and special reference to homovanillic acid in CSF]

1 reference

12 December 2020

Torsion dystonia in Panay, Philippines

1 reference

12 December 2020

Tardive dystonia: Late-onset and persistent dystonia caused by antipsychotic drugs

1 reference

12 December 2020

Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis

1 reference

12 December 2020

Hemidystonia: a report of 22 patients and a review of the literature

1 reference

12 December 2020

Autosomal dominant motor system disease of the Portuguese: a review

1 reference

12 December 2020

Myoclonus and dystonia: a family study

1 reference

12 December 2020

Pathology of the torsion dystonias (dystonia musculorum deformans)

1 reference

12 December 2020

Familial syndrome with dystonia, neural deafness, and possible intellectual impairment: clinical course and pathological findings

1 reference

12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

12 December 2020

Neurological findings in triosephosphate isomerase deficiency

1 reference

12 December 2020

Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia

1 reference

12 December 2020

A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration

1 reference

12 December 2020

Leber's disease and dystonia: a mitochondrial disease

1 reference

12 December 2020

Remission in spasmodic torticollis

1 reference

12 December 2020

Basal ganglia calcification, hypoparathyroidism, and extrapyramidal motor manifestations.

1 reference

12 December 2020

The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme

1 reference

12 December 2020

Decreased ventricular fluid norepinephrine metabolite in childhood-onset dystonia

1 reference

12 December 2020

The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography

1 reference

12 December 2020

Pathology in brainstem regions of individuals with primary dystonia

1 reference

12 December 2020

Progressive dystonia masking ataxia in ataxia-telangiectasia

1 reference

12 December 2020

Diminished ventricular fluid dopamine metabolites in adult-onset dystonia

1 reference

12 December 2020

Investigation of dystonia

1 reference

12 December 2020

Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy

1 reference

12 December 2020

Manganese and extrapyramidal disorders (a critical review and tribute to Dr. George C. Cotzias).

1 reference

12 December 2020

Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors

1 reference

12 December 2020

Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans).

1 reference

12 December 2020

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features

1 reference

12 December 2020

Adult GM1-gangliosidosis: clinical patterns and rectal biopsy.

1 reference

12 December 2020

Concentrations of GABA and other amino acids in CSF from torsion dystonia patients

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation--consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings.

1 reference

12 December 2020

A genetic study of torsion dystonia

1 reference

12 December 2020

A familial study in serum dopamine-beta-hydroxylase levels in torsion dystonia

1 reference

12 December 2020

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Homocystinuria and dystonia

1 reference

12 December 2020

Efficient computations in multilocus linkage analysis

1 reference

12 December 2020

Idiopathic dystonia musculorum deformans. II. The formes frustes

1 reference

12 December 2020

Brain neurotransmitters in dystonia

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

12 December 2020

Acute neurological dysfunction associated with destructive lesions of the basal ganglia in children.

1 reference

12 December 2020

Early-morning dystonia. A late side effect of long-term levodopa therapy in Parkinson's disease

1 reference

12 December 2020

1 reference

12 December 2020

Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34.

1 reference

12 December 2020

Studies on dystonia musculorum deformans

1 reference

12 December 2020

Clinical course of idiopathic torsion dystonia among Jews in Israel

1 reference

12 December 2020

Aronson SM, Aronson BE: Clinical neuropathological conference

1 reference

12 December 2020

Progressive dementia and epilepsy in a young adult: unusual intraneuronal inclusions.

1 reference

12 December 2020

Inheritance of idiopathic torsion dystonia among Jews

1 reference

12 December 2020

Serum dopamine beta hydroxylase activity and metoclopramide provocative test in torsion dystonia

1 reference

12 December 2020

X-linked recessive torsion dystonia in the Philippines

1 reference

12 December 2020

A computer program for linkage analysis of general human pedigrees

1 reference

12 December 2020

Paroxysmal dystonic choreoathetosis of Mount and Reback

1 reference

12 December 2020

The torsion dystonias: Literature review and genetic and clinical studies

1 reference

12 December 2020

Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion

1 reference

12 December 2020

Natural history of idiopathic torsion dystonia

1 reference

12 December 2020

Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus

1 reference

12 December 2020

Autosomal dominant torsion dystonia in a Swedish family

1 reference

12 December 2020

Inheritance of idiopathic torsion dystonia among Ashkenazi Jews

1 reference

12 December 2020

Hereditary Parkinsonism-dystonia with sustained control by L-DOPA and anticholinergic medication

1 reference

12 December 2020

Blepharospasm associated with brainstem lesions.

1 reference

12 December 2020

Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations

1 reference

12 December 2020

Familial paroxysmal dystonia

1 reference

12 December 2020

Human gene for torsion dystonia located on chromosome 9q32-q34.

1 reference

12 December 2020

Inheritance of torsion dystonia in jews

1 reference

12 December 2020

DOPA-sensitive progressive dystonia of childhood with fluctuations of symptoms--Segawa's syndrome and possible variants. Results of a collaborative study of the European Federation of Child Neurology Societies (EFCNS).

1 reference

12 December 2020

Hereditary essential myoclonus

1 reference

12 December 2020

Localization of gelsolin proximal to ABL on chromosome 9

1 reference

12 December 2020

Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208922

1 reference

Dimensions Publication ID

29 August 2017

1044502951

0 references

1 reference