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List of works by H Jurgen Schelhaas

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease

scientific article published on 22 December 2015

A case of neuromuscular mimicry

scientific article

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

scientific article

Acute deterioration of bulbar function after botulinum toxin treatment for sialorrhoea in amyotrophic lateral sclerosis.

scientific article published on April 2008

Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs

scientific article published in August 2008

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

scientific article

CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis

scientific article published in October 2009

Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19).

scientific article

Cognitive impairment in SCA-19.

scientific article

Cumulative effect of 5 daily sessions of θ burst stimulation on corticospinal excitability in amyotrophic lateral sclerosis

scientific article published on 30 August 2013

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes

scientific article published in April 2009

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

scientific article published on 01 October 2015

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

scientific article published on 13 September 2012

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

scientific article published on 22 February 2006

Fasciculations and their F-response revisited: High-density surface EMG in ALS and benign fasciculations ⬇️

scientific article published on August 4, 2011

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

scientific article

Increased plasma amyloid-beta42 protein in sporadic inclusion body myositis

scientific article published on 6 June 2009

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy

scientific article

Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis

scientific article published on 01 March 2012

Is the Frontal Assessment Battery reliable in ALS patients? ⬇️

scientific article published on August 13, 2012

Letter: Evaluating the care of a multidisciplinary clinic by using the White Paper "Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy".

scientific article published in September 2015

Letter: Recruitment of patients with both epilepsy and intellectual disability

scientific article published on 01 April 2015

Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial ⬇️

scientific article published on February 29, 2012

Measuring the cortical silent period can increase diagnostic confidence for amyotrophic lateral sclerosis

scientific article published in February 2007

Muscle changes in amyotrophic lateral sclerosis: a longitudinal ultrasonography study

scientific article published on 01 March 2011

Muscle ultrasonography: a diagnostic tool for amyotrophic lateral sclerosis

scientific article published on 13 January 2012

Neuromuscular transmission in SCA6

scientific article published on 01 March 2004

Neurophysiologic studies in early-onset cerebellar ataxia

scientific article published on August 2006

Normal values for quantitative muscle ultrasonography in adults

scientific article published in January 2010

Parental age and the risk of amyotrophic lateral sclerosis

scientific article published on 14 November 2012

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

scientific article published on 16 May 2017

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

scientific article published on 27 May 2011

Prevalence and distribution of fasciculations in healthy adults: Effect of age, caffeine consumption and exercise.

scientific article published in January 2010

Quantitative muscle ultrasonography in amyotrophic lateral sclerosis

scientific article published on 26 October 2007

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis

scientific article

Rise and fall of skeletal muscle size over the entire life span

scientific article published in July 2007

Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes

scientific article published in March 2009

Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis

scientific article

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

scientific article

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

scientific article

The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.

scientific article published on 12 September 2012

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