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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.928-939

2017

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Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy

Healthcare (Basel), 2023-10, Vol.11 (19), p.2662

2023

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Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

American journal of human genetics, 2008-08, Vol.83 (2), p.193-199

2008

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Effect of single dose methylphenidate on walking and postural stability under single- and dual-task conditions in older adults - a double-blind randomized control trial

The journals of gerontology. Series A, Biological sciences and medical sciences, 2013-10, Vol.68 (10), p.1271-1280

2013

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A Novel Mutation in SCN9A in a Child With Congenital Insensitivity to Pain

Pediatric neurology, 2014, Vol.50 (1), p.73-76

2014

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Immunoglobulin Treatment for Severe Childhood Epilepsy

Pediatric neurology, 2012-06, Vol.46 (6), p.375-381

2012

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Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy

International journal of environmental research and public health, 2022-09, Vol.19 (18), p.11595

2022

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Correlates of quality of life in mothers of children with diagnosed epilepsy

Epilepsy & behavior, 2019-04, Vol.93, p.80-86

2019

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Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

Proceedings of the National Academy of Sciences - PNAS, 2023-02, Vol.120 (7), p.e2217831120

2023

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ZNF142 mutation causes sex-dependent neurologic disorder

Journal of medical genetics, 2024-06, Vol.61 (6), p.566-577

2024

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Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation

Annals of neurology, 2016-11, Vol.80 (5), p.708-717

2016

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CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

Blood, 2013-01, Vol.121 (1), p.129-135

2013

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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

Journal of medical genetics, 2016-06, Vol.53 (6), p.397-402

2016

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New DSM-5 Criteria for ADHD- Does it Matter?

Comprehensive psychiatry, 2016-07, Vol.68, p.56-59

2016

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SEC31A mutation affects ER homeostasis, causing a neurological syndrome

Journal of medical genetics, 2019-03, Vol.56 (3), p.139-148

2019

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Blood–brain barrier dysfunction can contribute to pharmacoresistance of seizures

Epilepsia (Copenhagen), 2014-08, Vol.55 (8), p.1255-1263

2014

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Changes in Cerebral Venous Sinuses Diameter After Lumbar Puncture in Idiopathic Intracranial Hypertension: A Prospective MRI Study

Journal of neuroimaging, 2013-07, Vol.23 (3), p.375-378

2013

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RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.961-970

2018

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The effect of methylphenidate on postural stability under single and dual task conditions in children with attention deficit hyperactivity disorder — A double blind randomized control trial

Journal of the neurological sciences, 2009-05, Vol.280 (1), p.15-21

2009

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PSMC1 variant causes a novel neurological syndrome

Clinical genetics, 2022-10, Vol.102 (4), p.324-332

2022

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Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1506-1512

2020

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Prolonged febrile seizures, clinical characteristics, and acute management

Epilepsia (Copenhagen), 2013-06, Vol.54 (6), p.1092-1098

2013

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Temporal lobe surgery for intractable epilepsy in children: What to do with the hippocampus?

Seizure (London, England), 2017-11, Vol.52, p.81-88

2017

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Pediatric epilepsy and parental sleep quality

Journal of clinical sleep medicine, 2011-10, Vol.7 (5), p.502-506

2011

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Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

Human mutation, 2010-09, Vol.31 (9), p.E1670-E1686

2010

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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Effect of single dose methylphenidate on walking and postural stability under single- and dual-task conditions in older adults - a double-blind randomized control trial

A Novel Mutation in SCN9A in a Child With Congenital Insensitivity to Pain

Immunoglobulin Treatment for Severe Childhood Epilepsy

Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy

Correlates of quality of life in mothers of children with diagnosed epilepsy

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

ZNF142 mutation causes sex-dependent neurologic disorder

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

New DSM-5 Criteria for ADHD- Does it Matter?

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

Blood–brain barrier dysfunction can contribute to pharmacoresistance of seizures

Changes in Cerebral Venous Sinuses Diameter After Lumbar Puncture in Idiopathic Intracranial Hypertension: A Prospective MRI Study

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3

The effect of methylphenidate on postural stability under single and dual task conditions in children with attention deficit hyperactivity disorder — A double blind randomized control trial

PSMC1 variant causes a novel neurological syndrome

Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome

Prolonged febrile seizures, clinical characteristics, and acute management

Temporal lobe surgery for intractable epilepsy in children: What to do with the hippocampus?

Pediatric epilepsy and parental sleep quality

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

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