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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3106-3118

2013

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Glucose transporter type 1 deficiency syndrome and paroxysmal exercise-induced dyskinesia

Practical neurology, 2024-07, p.pn-2024-004118

2024

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Guidelines on the diagnosis and management of the progressive ataxias

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.51-51, Article 51

2019

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De Clerambault's syndrome (erotomania) as a presenting feature of fronto-temporal dementia and motor neurone disease (FTD-MND)

Behavioural neurology, 2007, Vol.18 (3), p.193-195

2007

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Maternal and fetal outcomes in women with cerebrovascular malformations in pregnancy: A multicentre retrospective cohort study

BJOG : an international journal of obstetrics and gynaecology, 2022-06, Vol.129 (7), p.1151-1157

2022

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Ataxia management: low-tech approaches

Practical neurology, 2021-12, Vol.21 (6), p.466-467

de Silva, Rajith Nilantha

2021

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Diagnosis and management of progressive ataxia in adults

Practical neurology, 2019-06, Vol.19 (3), p.196-207

2019

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A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias

Movement disorders clinical practice (Hoboken, N.J.), 2022-11, Vol.9 (8), p.1027-1039

2022

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Terson's syndrome following epidural blood patch for spontaneous intracranial hypotension

Practical neurology, 2023-10, Vol.23 (5), p.434-435

2023

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“The Mind Is Its Own Place” : Amelioration of Claustrophobia in Semantic Dementia

Behavioural neurology, 2014-01, Vol.2014 (2014), p.1-5

2014

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Peripartum Isolated Cortical Vein Thrombosis in a Mother with Postdural Puncture Headache Treated with an Epidural Blood Patch

Case Reports in Medicine, 2013-01, Vol.2013 (2013), p.1-3

2013

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A hill walker with long chains

Practical neurology, 2017-02, Vol.17 (1), p.71-73

2017

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A Systematic Review of the Spectrum and Prevalence of Non-motor Symptoms in Multiple System Atrophy

Cerebellum (London, England), 2024-08, Vol.23 (4), p.1642-1650

2024

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LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.623-627

2005

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Non-motor symptoms (NMS) in progressive cerebellar ataxia

Journal of the neurological sciences, 2023-12, Vol.455, p.121141, Article 121141

2023

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Go now, says NHS chief. Time for debate

BMJ (Online), 2010-12, Vol.341, p.c7291

de Silva, Rajith N

2010

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Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy

Genetics Research International, 2013-01, Vol.2013 (2013), p.1-12

2013

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Acquired narcolepsy in an acromegalic patient who underwent pituitary irradiation

Neurology, 2003-08, Vol.61 (4), p.537-540

2003

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3106-3118

2013

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Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom : a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

Human genetics, 1996-09, Vol.98 (3), p.259-264

1996

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Neuroanatomical Basis of Clinical Neurology

Journal of the Royal Society of Medicine, 2002-06, Vol.95 (6), p.321-322

De Silva, Rajith

2002

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Unusual amnesia in a patient with VGKC-Ab limbic encephalitis: A case study

Cortex, 2011-04, Vol.47 (4), p.451-459

2011

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LRRK2 G2019S in the North African Population: A Review

European neurology, 2010-01, Vol.63 (6), p.321-325

2010

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Regional Cerebral Perfusion and Amytal Distribution During the Wada Test

The Journal of nuclear medicine (1978), 1999-05, Vol.40 (5), p.747-752

1999

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Glucose transporter type 1 deficiency syndrome and paroxysmal exercise-induced dyskinesia

Guidelines on the diagnosis and management of the progressive ataxias

De Clerambault's syndrome (erotomania) as a presenting feature of fronto-temporal dementia and motor neurone disease (FTD-MND)

Maternal and fetal outcomes in women with cerebrovascular malformations in pregnancy: A multicentre retrospective cohort study

Ataxia management: low-tech approaches

Diagnosis and management of progressive ataxia in adults

A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias

Terson's syndrome following epidural blood patch for spontaneous intracranial hypotension

“The Mind Is Its Own Place” : Amelioration of Claustrophobia in Semantic Dementia

Peripartum Isolated Cortical Vein Thrombosis in a Mother with Postdural Puncture Headache Treated with an Epidural Blood Patch

A hill walker with long chains

A Systematic Review of the Spectrum and Prevalence of Non-motor Symptoms in Multiple System Atrophy

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Non-motor symptoms (NMS) in progressive cerebellar ataxia

Go now, says NHS chief. Time for debate

Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Acquired narcolepsy in an acromegalic patient who underwent pituitary irradiation

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom : a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

Neuroanatomical Basis of Clinical Neurology

Unusual amnesia in a patient with VGKC-Ab limbic encephalitis: A case study

LRRK2 G2019S in the North African Population: A Review

Regional Cerebral Perfusion and Amytal Distribution During the Wada Test

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