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Cerebrotendinous xanthomatosis without neurological involvement

Journal of internal medicine, 2021-11, Vol.290 (5), p.1039-1047

2021

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Prognostic factors after a first attack of inflammatory CNS demyelination in children

Neurology, 2008-09, Vol.71 (13), p.967

2008

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Quantitative ultrasonography of skeletal muscles in children: Normal values

Muscle & nerve, 2003-06, Vol.27 (6), p.693-698

2003

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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Journal of medical genetics, 2005-12, Vol.42 (12), p.907-912

2005

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Quantitative skeletal muscle ultrasound: Diagnostic value in childhood neuromuscular disease

Neuromuscular disorders : NMD, 2007-07, Vol.17 (7), p.509-516

2007

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Severe Hypomagnesaemia Causing Reversible Cerebellopathy

Cerebellum (London, England), 2014-10, Vol.13 (5), p.659-662

2014

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A transient neonatal myasthenic syndrome with anti-musk antibodies

Neurology, 2008-04, Vol.70 (14), p.1215

2008

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Quantitative skeletal muscle ultrasonography in children with suspected neuromuscular disease

Muscle & nerve, 2003-06, Vol.27 (6), p.699-705

2003

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Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

Neurology, 2018-05, Vol.90 (22), p.e1997

2018

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No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.370-373

2016

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P628: Electrophysiological data of DSMA1 patients in the Netherlands

Clinical neurophysiology, 2014-06, Vol.125, p.S219-S219

2014

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Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis

Journal of inherited metabolic disease, 2002-10, Vol.25 (6), p.501-513

2002

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Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings

Radiology, 2000-12, Vol.217 (3), p.869

2000

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Mutations in the sterol 27‐hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.501-513

2002

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Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

Neurology, 2006-07, Vol.67 (2), p.346

2006

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Age and Gender Differences in Health-Related Quality of Life of Children and Adolescents in Europe: A Multilevel Analysis

Quality of life research, 2009-11, Vol.18 (9), p.1147-1157

2009

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PRM194 - INVESTIGATING THE RELATIONSHIP BETWEEN AGE AND EXPANDED DISABILITY STATUS SCALE SCORE IN UNTREATED AND CHENODEOXYCHOLIC ACID-TREATED CEREBROTENDINOUS XANTHOMATOSIS PATIENTS

Value in health, 2018-10, Vol.21, p.S389-S389

2018

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Giant aneurysm with dolichoectasia involving the carotid artery system

Acta neurologica Belgica, 2011-09, Vol.111 (3), p.259-259

2011

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Being bullied: associated factors in children and adolescents 8 to 18 years old in 11 European countries

Pediatrics (Evanston), 2009-02, Vol.123 (2), p.569

2009

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Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.387-393

2008

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Prognostic factors for relapse and outcome in pediatric acute transverse myelitis

Brain & development (Tokyo. 1979), 2021-05, Vol.43 (5), p.626-636

2021

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P.13 What is the future for female patients with childhood onset symptomatic Duchenne muscular dystrophy?

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S49

2022

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Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

Brain (London, England : 1878), 1999-08, Vol.122 (8), p.1589-1595

1999

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Socioeconomic inequalities in mental health and health-related quality of life (HRQOL) in children and adolescents from 11 European countries

International journal of public health, 2014-02, Vol.59 (1), p.95-105

2014

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Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension

Neuropediatrics, 2009-08, Vol.40 (4), p.201

2009

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Cerebrotendinous xanthomatosis without neurological involvement

Prognostic factors after a first attack of inflammatory CNS demyelination in children

Quantitative ultrasonography of skeletal muscles in children: Normal values

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Quantitative skeletal muscle ultrasound: Diagnostic value in childhood neuromuscular disease

Severe Hypomagnesaemia Causing Reversible Cerebellopathy

A transient neonatal myasthenic syndrome with anti-musk antibodies

Quantitative skeletal muscle ultrasonography in children with suspected neuromuscular disease

Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome

P628: Electrophysiological data of DSMA1 patients in the Netherlands

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings

Mutations in the sterol 27‐hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

Age and Gender Differences in Health-Related Quality of Life of Children and Adolescents in Europe: A Multilevel Analysis

PRM194 - INVESTIGATING THE RELATIONSHIP BETWEEN AGE AND EXPANDED DISABILITY STATUS SCALE SCORE IN UNTREATED AND CHENODEOXYCHOLIC ACID-TREATED CEREBROTENDINOUS XANTHOMATOSIS PATIENTS

Giant aneurysm with dolichoectasia involving the carotid artery system

Being bullied: associated factors in children and adolescents 8 to 18 years old in 11 European countries

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX

Prognostic factors for relapse and outcome in pediatric acute transverse myelitis

P.13 What is the future for female patients with childhood onset symptomatic Duchenne muscular dystrophy?

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

Socioeconomic inequalities in mental health and health-related quality of life (HRQOL) in children and adolescents from 11 European countries

Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension

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