(Q36426285)

14 August 2017

1 reference

title

Delineation of the motor disorder of Lesch-Nyhan disease (English)

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14 August 2017

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15

Bastiaan R Bloem

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14 August 2017

20

Stephen G Reich

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14 August 2017

H A Jinnah

1

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14 August 2017

Jasper E Visser

2

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14 August 2017

James C Harris

3

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14 August 2017

Alfonso Verdu

4

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14 August 2017

Laura Larovere

5

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14 August 2017

Irene Ceballos-Picot

6

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14 August 2017

Pedro Gonzalez-Alegre

7

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14 August 2017

Vladimir Neychev

8

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14 August 2017

Rosa J Torres

9

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14 August 2017

Olivier Dulac

10

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14 August 2017

Isabelle Desguerre

11

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14 August 2017

David J Schretlen

12

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14 August 2017

Kenneth L Robey

13

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14 August 2017

Gabor Barabas

14

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14 August 2017

William Nyhan

16

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14 August 2017

Raquel De Kremer

17

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14 August 2017

Gary E Eddey

18

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14 August 2017

Juan G Puig

19

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14 August 2017

Lesch-Nyhan Disease International Study Group

21

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14 August 2017

language of work or name

English

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publication date

20 March 2006

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14 August 2017

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14 August 2017

129

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14 August 2017

Pt 5

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14 August 2017

1201-1217

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Self-mutilation in the Lesch-Nyhan syndrome

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Striatal deformities of the hand and foot in Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Misdiagnoses in children with dopa-responsive dystonia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Dysfunction of dopaminergic pathways in dystonia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Movement disorders in children: definitions, classifications, and grading systems

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Animal models of Parkinson's disease in rodents induced by toxins: an update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Classification and definition of disorders causing hypertonia in childhood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Tardive and idiopathic oromandibular dystonia: a clinical comparison

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Atlantoaxial instability in Lesch-Nyhan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Self-injury in Lesch-Nyhan disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Cervical spondylotic radiculo-myelopathy in patients with athetoid-dystonic cerebral palsy: clinical evaluation and surgical treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Clinical and biochemical studies on treatment of Lesch-Nyhan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Orofacial and other self-mutilations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Concept and classification of dystonia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Acanthocytosis and neurological impairment--a review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Presynaptic dopaminergic deficits in Lesch-Nyhan disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Dystonic foot response of Parkinsonism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Hyperuricemia and mental retardation with athetosis and self-mutilation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Levodopa side-effects and the Lesch-Nyhan syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Long-term follow-up of ten patients with Lesch-Nyhan syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Cervical myelopathy secondary to movement disorders: case report

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Cognitive abilities of patients with Lesch-Nyhan disease.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Proceedings: Necropsy findings in a case of Lesch-Nyhan syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Behavior in the Lesch-Nyhan syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Behavioral aspects of Lesch-Nyhan disease and its variants

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Lesch-Nyhan disease in a female with a clinically normal monozygotic twin

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Not paralysis, but dystonia causes stridor in multiple system atrophy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Differential effects of bilateral dopamine depletion in neonatal and adult rats

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Cognitive functioning in Lesch-Nyhan syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

The Lesch-Nyhan Syndrome: Self-Destructive Biting, Mental Retardation, Neurological Disorder and Hyperuricaemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Juvenile gout with brain involvement.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

The pathological condition of Lesch-Nyhan syndrome. Report of two cases.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Lesch-Nyhan syndrome: autopsy findings and in vitro study of incorporation of 14C-8-inosine into uric acid, guanosine-monophosphate and adenosine-monophosphate in the liver.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508431

A female case of the Leach-Nyhan syndrome

21 September 2018

1 reference

12 December 2020

Self-mutilation in Lesch-Nyhan disease is caused by dopaminergic denervation

1 reference

12 December 2020

Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome

1 reference

12 December 2020

Lesch-Nyhan syndrome: report of two cases

1 reference

12 December 2020

Cervical stenosis and dystonic cerebral palsy

1 reference

12 December 2020

Cervical spondylosis in patients with athetosis

1 reference

12 December 2020

HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES

1 reference

12 December 2020

The spectrum of mutations causing HPRT deficiency: an update

1 reference

12 December 2020

Unstable cervical spine in athetoid cerebral palsy

1 reference

12 December 2020

Recurrent coma and Lesch-Nyhan syndrome

1 reference

12 December 2020

Lesch-Nyhan syndrome in a girl

1 reference

12 December 2020

Treatment of adductor laryngeal breathing dystonia with botulinum toxin type A

1 reference

12 December 2020

The cervical spine in athetoid cerebral palsy. A radiological study of 180 patients

1 reference

12 December 2020

Perioperative use of botulinum toxin for movement disorder-induced cervical spine disease

1 reference

12 December 2020

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

1 reference

12 December 2020

Severe motor tics causing cervical myelopathy in Tourette's syndrome

1 reference

12 December 2020

Risperidone antagonism of self-mutilation in a Lesch-Nyhan patient

1 reference

12 December 2020

'Cognition in LND: a two-year follow-up study'

1 reference

12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

1 reference

12 December 2020

Lesch-Nyhan disease and the basal ganglia

1 reference

12 December 2020

Ocular motor dysfunction in Lesch-Nyhan disease

1 reference

12 December 2020

Lesch-Nyhan syndrome. Pathology and pathologic physiology. Summary

1 reference

12 December 2020

The Lesch-Nyhan syndrome

1 reference

12 December 2020

Cervical spondylosis and dyskinesias

1 reference

12 December 2020

Letter: Self mutilation in Lesch-Nyhan syndrome

1 reference

12 December 2020

Pathological and immunological observations in a case of Lesch-Nyhan-syndrome

1 reference

12 December 2020

Classification of extrapyramidal disorders. Proposal for an international classification and glossary of terms

1 reference

12 December 2020

[Neuropathological findings in Lesch-Nyhan syndrome (author's transl)]

1 reference

12 December 2020

Lesch-Nyhan disease: clinical experience with nineteen patients

1 reference

12 December 2020

The motor disorder of classic Lesch-Nyhan disease

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWL056

1 reference

14 August 2017

1 reference

14 August 2017

1 reference