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The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Neurology, 2009-04, Vol.72 (14), p.1242

2009

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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Clinical genetics, 2015-10, Vol.88 (4), p.327-335

2015

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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

Clinical genetics, 2017-05, Vol.91 (5), p.725-738

2017

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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.418-426

2019

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Journal of medical genetics, 2010-04, Vol.47 (4), p.242-248

2010

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin

European journal of neurology, 2009-04, Vol.16 (4), p.482-487

2009

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The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2015-04, Vol.168B (3), p.197-203

2015

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Glatiramer acetate (GA, Copolymer-1) an hypothetical treatment option for Rett syndrome

Medical hypotheses, 2011-02, Vol.76 (2), p.190-193

2011

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Outcome of lamotrigine treatment in juvenile myoclonic epilepsy

Acta neurologica Scandinavica, 2011-07, Vol.124 (1), p.22-27

2011

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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

Neurogenetics, 2009-07, Vol.10 (3), p.241-250

2009

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Creatine transporter deficiency: Novel mutations and functional studies

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.20-23

2016

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set

Neurology, 2008-03, Vol.70 (11), p.868

2008

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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

European journal of paediatric neurology, 2018-01, Vol.22 (1), p.93-101

2018

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Unilateral Rhythmic Hand Tapping in Rett Syndrome: Is This Stereotypy?

Journal of child neurology, 2013-10, Vol.28 (10), p.1210-1214

2013

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions

European journal of neurology, 2009-05, Vol.16 (5), p.555-555

2009

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Cerebral venous thrombosis in the mediterranean area in children

Mediterranean journal of hematology and infectious diseases, 2011-01, Vol.3 (1), p.e2011029-e2011029

2011

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Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

European journal of paediatric neurology, 2017-06, Vol.21, p.e214-e214

2017

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P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.772-773

2013

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Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Journal of medical genetics, 2003-08, Vol.40 (8), p.e96-96

2003

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Malformations of cortical development with balloon cells: clinical and radiologic correlates

Neurology, 2003-02, Vol.60 (4), p.580

2003

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Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

Journal of medical genetics, 2007-02, Vol.44 (2), p.e56-e56

2007

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Vacuolating Megalencephalic Leukoencephalopathy in 12 Israeli Patients

Journal of child neurology, 2001-02, Vol.16 (2), p.93-99

2001

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Intrathecal baclofen for severe torsion dystonia in a child

Acta Paediatrica, 1996-05, Vol.85 (5), p.635-637

1996

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Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein

Muscle & nerve, 2004-01, Vol.29 (1), p.66-72

2004

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Inborn errors of metabolism: a cause of abnormal brain development

Neurology, 2001-05, Vol.56 (10), p.1265

2001

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The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin

The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome

Glatiramer acetate (GA, Copolymer-1) an hypothetical treatment option for Rett syndrome

Outcome of lamotrigine treatment in juvenile myoclonic epilepsy

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

Creatine transporter deficiency: Novel mutations and functional studies

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

Unilateral Rhythmic Hand Tapping in Rett Syndrome: Is This Stereotypy?

Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions

Cerebral venous thrombosis in the mediterranean area in children

Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Malformations of cortical development with balloon cells: clinical and radiologic correlates

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

Vacuolating Megalencephalic Leukoencephalopathy in 12 Israeli Patients

Intrathecal baclofen for severe torsion dystonia in a child

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein

Inborn errors of metabolism: a cause of abnormal brain development

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