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SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.294-303

2013

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What sample sizes for reliability and validity studies in neurology?

Journal of neurology, 2012-12, Vol.259 (12), p.2681-2694

2012

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TorsinA and dystonia: from nuclear envelope to synapse

Journal of neurochemistry, 2009-06, Vol.109 (6), p.1596-1609

2009

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Human spastin has multiple microtubule‐related functions

Journal of neurochemistry, 2005-12, Vol.95 (5), p.1411-1420

2005

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Nature genetics, 2004-03, Vol.36 (3), p.271-276

2004

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Patient-based outcomes of cervical dystonia: A review of rating scales

Movement disorders, 2004-09, Vol.19 (9), p.1054-1059

2004

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A Characterization of the Variation in Relative Humidity across West Africa during the Dry Season

Journal of applied meteorology and climatology, 2012-12, Vol.51 (12), p.2077-2089

2012

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

Annals of neurology, 2004-10, Vol.56 (4), p.586-590

2004

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Impact of cervical dystonia on quality of life

Movement disorders, 2002-07, Vol.17 (4), p.838-841

2002

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Expression of mutant α-synuclein causes increased susceptibility to dopamine toxicity

Human molecular genetics, 2000-11, Vol.9 (18), p.2683-2689

2000

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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

Brain (London, England : 1878), 2004-05, Vol.127 (5), p.973-980

2004

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Evidence-based guidelines for using the Short Form 36 in cervical dystonia

Movement disorders, 2007-01, Vol.22 (1), p.122-127

2007

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Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells

Movement disorders, 2005-04, Vol.20 (4), p.432-440

2005

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Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Movement disorders, 2002-07, Vol.17 (4), p.717-725

2002

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A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Neurogenetics, 2005-05, Vol.6 (2), p.79-84

2005

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A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

Journal of neurology, 2004-09, Vol.251 (9), p.1068-1074

2004

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Three novel spastin ( SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

Journal of the neurological sciences, 2002-09, Vol.201 (1), p.65-69

2002

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Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ∈-sarcoglycan gene

Movement disorders, 2007, Vol.22 (8), p.1173-1175

2007

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Genetic and environmental factors in the cause of Parkinson's disease. Discussion: Neurodegeneration and prospects for neuroprotection and rescue in Parkinson's disease

Annals of neurology, 2003, Vol.53, p.S16-S25

2003

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Identification of Effective Strategies to Promote Language in Deaf Children With Cochlear Implants

Child development, 2013-03, Vol.84 (2), p.543-559

2013

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Self-management counseling in patients with heart failure: the heart failure adherence and retention randomized behavioral trial

JAMA : the journal of the American Medical Association, 2010-09, Vol.304 (12), p.1331

2010

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Cognitive Function after Major Noncardiac Surgery, Apolipoprotein E4 Genotype, and Biomarkers of Brain Injury

Anesthesiology (Philadelphia), 2010-04, Vol.112 (4), p.852-859

2010

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Analysis of the ∈-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Movement disorders, 2003, Vol.18 (9), p.1047-1051

2003

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Management of pediatric trauma

Pediatrics (Evanston), 2008-04, Vol.121 (4), p.849

2008

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Intraoperative Magnesium Administration Does Not Improve Neurocognitive Function After Cardiac Surgery

Stroke (1970), 2013-12, Vol.44 (12), p.3407-3413

2013

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SGCE mutations cause psychiatric disorders: clinical and genetic characterization

What sample sizes for reliability and validity studies in neurology?

TorsinA and dystonia: from nuclear envelope to synapse

Human spastin has multiple microtubule‐related functions

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Patient-based outcomes of cervical dystonia: A review of rating scales

A Characterization of the Variation in Relative Humidity across West Africa during the Dry Season

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

Impact of cervical dystonia on quality of life

Expression of mutant α-synuclein causes increased susceptibility to dopamine toxicity

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

Evidence-based guidelines for using the Short Form 36 in cervical dystonia

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

Three novel spastin ( SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ∈-sarcoglycan gene

Genetic and environmental factors in the cause of Parkinson's disease. Discussion: Neurodegeneration and prospects for neuroprotection and rescue in Parkinson's disease

Identification of Effective Strategies to Promote Language in Deaf Children With Cochlear Implants

Self-management counseling in patients with heart failure: the heart failure adherence and retention randomized behavioral trial

Cognitive Function after Major Noncardiac Surgery, Apolipoprotein E4 Genotype, and Biomarkers of Brain Injury

Analysis of the ∈-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Management of pediatric trauma

Intraoperative Magnesium Administration Does Not Improve Neurocognitive Function After Cardiac Surgery

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