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Progranulin genetic variability contributes to amyotrophic lateral sclerosis

Neurology, 2008-07, Vol.71 (4), p.253-259

2008

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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

Annals of human genetics, 2008-05, Vol.72 (3), p.416-441

2008

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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Molecular psychiatry, 2016-08, Vol.21 (8), p.1112-1124

2016

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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Journal of neurology, neurosurgery and psychiatry, 2010, Vol.81 (1), p.90-93

2010

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Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Neurology, 2010-08, Vol.75 (5), p.432-440

2010

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Self-Injurious Behaviour in nursing home residents with dementia

International journal of geriatric psychiatry, 2005-07, Vol.20 (7), p.651-657

2005

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

European journal of human genetics : EJHG, 2018-06, Vol.26 (11), p.1623-1634

2018

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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Brain (London, England : 1878), 2008-07, Vol.131 (7), p.1831-1844

2008

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136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.396-402

2006

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Mutations in SACS cause atypical and late-onset forms of ARSACS

Neurology, 2010-09, Vol.75 (13), p.1181-1188

2010

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De novo KCNQ2 mutations in patients with benign neonatal seizures

Neurology, 2004-12, Vol.63 (11), p.2155-2158

2004

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Treatment for Charcot-Marie-Tooth disease

Cochrane database of systematic reviews, 2008-01 (1), p.CD006052

2008

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De novo SCN1A mutations in migrating partial seizures of infancy

Neurology, 2011-07, Vol.77 (4), p.380-383

2011

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Neurology, 2004-10, Vol.63 (7), p.1251-1257

2004

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A novel GABRG2 mutation associated with febrile seizures

Neurology, 2006-08, Vol.67 (4), p.687-690

2006

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Neurology, 2011-08, Vol.77 (6), p.540-548

2011

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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Neurogenetics, 2013-02, Vol.14 (1), p.23-34

2013

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PRRT2 mutations: exploring the phenotypical boundaries

Journal of neurology, neurosurgery and psychiatry, 2014-04, Vol.85 (4), p.462-465

2014

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Molecular genetics of distal hereditary motor neuropathies

Human molecular genetics, 2004-10, Vol.13 (suppl-2), p.R195-R202

2004

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1741-1752

2009

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology, 2011-12, Vol.77 (24), p.2105-2114

2011

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Neurology, 2010-09, Vol.75 (13), p.1159-1165

2010

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

Neurology, 2003-09, Vol.61 (6), p.854-856

2003

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Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

Neurology, 2010-07, Vol.75 (1), p.72-76

2010

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.590-597

2003

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Progranulin genetic variability contributes to amyotrophic lateral sclerosis

Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Self-Injurious Behaviour in nursing home residents with dementia

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The Netherlands

Mutations in SACS cause atypical and late-onset forms of ARSACS

De novo KCNQ2 mutations in patients with benign neonatal seizures

Treatment for Charcot-Marie-Tooth disease

De novo SCN1A mutations in migrating partial seizures of infancy

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

A novel GABRG2 mutation associated with febrile seizures

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

PRRT2 mutations: exploring the phenotypical boundaries

Molecular genetics of distal hereditary motor neuropathies

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

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