B. Ben-Zeev

发表

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

Markus Rapedius, R. Witzgall, R. Kleta, 2010, Proceedings of the National Academy of Sciences.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

K. Shianna, D. Ge, D. Goldstein, 2012, American journal of human genetics.

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

D. Nass, S. Polak‐Charcon, I. Barshack, 2017, Brain : a journal of neurology.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Yujun Han, Doron Lancet, Elon Pras, 2015, Genetics in Medicine.

Assessing cognitive functioning in females with Rett syndrome by eye-tracking methodology.

B. Ben-Zeev, A. Nissenkorn, Jaana Ahonniska-Assa, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Y. Anikster, M. Frydman, E. Pras, 2002, Human Genetics.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Osteoporosis in Rett Syndrome: A Study on Normal Values

B. Ben-Zeev, M. Lotan, Lilit Zysman, 2006, TheScientificWorldJournal.

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H

Rebecca C. Spillmann, I. Scheffer, M. Cilio, 2017, Epilepsia.

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

H. Leonard, B. Weiss, A. Siafarikas, 2016, PloS one.

Multiplex families with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures.

B. Ben-Zeev, U. Kramer, E. Kahana, 2000 .

Rett syndrome and epilepsy: an update for child neurologists.

E. Kossoff, B. Ben-Zeev, Alison M. Dolce, 2013, Pediatric neurology.

Influence of epileptic activity during sleep on cognitive performance in benign childhood epilepsy with centrotemporal spikes.

B. Ben-Zeev, O. Bar-Yosef, G. Heimer, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES)

L. Sagi, B. Ben-Zeev, U. Kramer, 2009, Epilepsia.

Congenital Hydrocephalus and Continuous Spike Wave in Slow-Wave Sleep—A Common Association?

B. Ben-Zeev, U. Kramer, N. Watemberg, 2004, Journal of child neurology.

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

D. Behar, N. Shomron, D. Lev, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Creatine transporter deficiency: Novel mutations and functional studies

N. Longo, Y. Anikster, R. Mao, 2016, Molecular genetics and metabolism reports.

Sulthiame in childhood epilepsy

B. Ben-Zeev, T. Lerman-Sagie, N. Watemberg, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Sensitivity and specificity of seizure‐onset zone estimation by ictal magnetoencephalography

I. Fried, J. Mäkelä, S. Taulu, 2012, Epilepsia.

Severe Refractory Status Epilepticus Owing to Presumed Encephalitis

B. Ben-Zeev, T. Lerman-Sagie, U. Kramer, 2005, Journal of child neurology.

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

D. Lev, S. Korman, N. Gregersen, 2007, Molecular genetics and metabolism.

Multiple sclerosis in Israeli children: incidence, an clinical, cerebrospinal fluid and magnetic resonance imaging findings.

A. Achiron, D. Magalashvili, B. Ben-Zeev, 2012, The Israel Medical Association journal : IMAJ.

Ataxia telangiectasia.

B. Ben-Zeev, A. Nissenkorn, 2015, Handbook of clinical neurology.

Clinical outcomes of closed-loop vagal nerve stimulation in patients with refractory epilepsy

B. Ben-Zeev, Z. Feldman, M. Tzadok, 2019, Seizure.

Outcome of infants with unilateral Sturge‐Weber syndrome and early onset seizures

B. Ben-Zeev, U. Kramer, E. Kahana, 2000, Developmental medicine and child neurology.

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

B. Ben-Zeev, B. Minassian, E. Gak, 2006, Journal of Medical Genetics.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

P. Mullaney, J. Demer, D. Mackey, 2004, Investigative ophthalmology & visual science.

Electroencephalography for children with autistic spectrum disorder: a sedation protocol

H. Berkenstadt, B. Ben-Zeev, I. Keidan, 2015, Paediatric anaesthesia.

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

Y. Nevo, B. Ben-Zeev, U. Kramer, 2009, European journal of neurology.

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

R. Arnon, B. Ben-Zeev, R. Aharoni, 2011, Medical hypotheses.

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

A. Pagnamenta, J. Lupski, J. Meiler, 2020, medRxiv.

Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodies

C. Hampe, R. Hemi, H. Kanety, 2016, Pediatric diabetes.

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

Yair Anikster, Sharon Aharoni, Bruria Ben-Zeev, 2013, Blood.

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

D. Nass, J. Gomori, D. Mevorach, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical Experience With Open-Label Topiramate Use in Infants Younger Than 2 Years of Age

B. Ben-Zeev, T. Lerman-Sagie, Itai Berger, 2003, Journal of child neurology.

Rare copy number variants are an important cause of epileptic encephalopathies

I. Scheffer, H. Mefford, E. Eichler, 2011, Annals of neurology.

Epilepsy in Rett syndrome—Lessons from the Rett networked database

Rachel S. Levy-Drummer, A. Vignoli, A. Clarke, 2015, Epilepsia.

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

V. Saletti, B. Ben-Zeev, L. Larizza, 2009, neurogenetics.

Analysis of the Phenotypes in the Rett Networked Database

A. Vignoli, A. Clarke, J. Armstrong, 2019, International journal of genomics.

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

M. Bennett, I. Tein, B. Ben-Zeev, 2004, Muscle & nerve.

Costeff syndrome: clinical features and natural history

D. Lev, A. Schweiger, B. Pode-Shakked, 2014, Journal of Neurology.

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

E. Bertini, E. Eyal, M. Scavina, 2017, Clinical genetics.

Langerhans' Cell Histiocytosis Presenting as Intracranial Hypertension

B. Ben-Zeev, D. Modan-Moses, Z. Feldman, 2001, Journal of child neurology.

Efficacy of corticosteroid therapy in treating epileptic encephalopathies and refractory epilepsies other than West syndrome

E. Shahar, B. Ben-Zeev, T. Lerman-Sagie, 2006, Journal of Pediatric Neurology.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A Potential Life-Threatening Reaction to Glatiramer Acetate in Rett Syndrome.

B. Ben-Zeev, M. Kidon, A. Nissenkorn, 2017, Pediatric neurology.

Scoliosis in RETT Syndrome: A National Referral Centre Experience.

A. Friedlander, U. Givon, B. Ben-Zeev, 2022, Clinical spine surgery.

Felbamate for pediatric epilepsy—should we keep on using it as the last resort?

B. Ben-Zeev, O. Bar-Yosef, G. Heimer, 2022, Frontiers in Neurology.

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

W. Kaufmann, H. Leonard, D. Ravine, 2008, Neurology.

Neonatal genital herpes simplex virus type 1 infection after Jewish ritual circumcision: modern medicine and religious tradition.

D. Greenberg, G. Koren, O. Levtzion-korach, 2004, Pediatrics.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

G. Rechavi, B. Pode-Shakked, O. Barel, 2021, Scientific Reports.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy in Isolated Sulfite Oxidase Deficiency

T. Kushnir, J. Kuint, Y. Anikster, 2007, Journal of child neurology.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

T. Walsh, M. King, Ming K. Lee, 2013, Epilepsia.

Botulinum Toxin Injections for Children With Excessive Drooling

A. Buchman, S. Hassin-Baer, B. Ben-Zeev, 2005, Journal of child neurology.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

I. Scheffer, S. Berkovic, D. Lev, 2001, American journal of human genetics.

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

B. Ben-Zeev, M. Lotan, 2006, TheScientificWorldJournal.

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

D. Lev, B. Ben-Zeev, T. Lerman-Sagie, 2003, Journal of medical genetics.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.

V. Dötsch, F. Perez, Y. Anikster, 2015, Molecular cell.

Dietary-Induced Ketogenesis: Adults Are Not Children

Y. Lawrence, Y. Anikster, B. Ben-Zeev, 2021, Nutrients.

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

B. Ben-Zeev, E. Petek, A. Zung, 2011, American journal of medical genetics. Part A.

Dermatologic manifestations of ataxia-telangiectasia syndrome.

S. Greenberger, B. Ben-Zeev, Y. Berkun, 2013, Journal of the American Academy of Dermatology.

Malformations of cortical development with balloon cells

H. Otsubo, O. C. Snead, M. Mackay, 2003, Neurology.

CBD-enriched medical cannabis for intractable pediatric epilepsy The current Israeli experience

O. B. Yosef, B. Ben-Zeev, U. Kramer, 2016, Seizure.

An Outbreak of Coxsackievirus B Type 2 Acute Meningoencephalitis in Children, Israel, July–September 2022

B. Ben-Zeev, M. Weil, C. Hoffmann, 2023, The Pediatric infectious disease journal.

Oligohydrosis and Hyperthermia: Pilot Study of a Novel Topiramate Adverse Effect

B. Ben-Zeev, N. Watemberg, A. Augarten, 2003, Journal of child neurology.

KCNQ2 encephalopathy

Eric Marsh, Brenda Porter, Vinodh Narayanan, 2016, Neurology: Genetics.

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Matthew T. Sweney, I. Scheffer, T. Fleming, 2022, The Lancet Neurology.

Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?

D. Vilozni, M. Frydman, R. Somech, 2011, The Journal of pediatrics.

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

G. Rechavi, B. Pode-Shakked, O. Barel, 2023, Frontiers in Genetics.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation

I. Biton, C. Behrends, A. Savidor, 2020, Autophagy.

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

E. Bertini, R. Borgatti, T. Mazza, 2021, Journal of Medical Genetics.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

William B Dobyns, Hanna Mandel, Bruria Ben-Zeev, 2010, American journal of human genetics.

Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets for Rett syndrome

Y. Tabach, B. Berman, B. Ben-Zeev, 2021, bioRxiv.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Jeffrey M. Weiss, Karynne E. Patterson, Gao T. Wang, 2016, American journal of human genetics.

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

E. Leshinsky‐Silver, D. Lev, J. Vockley, 2008, Molecular genetics and metabolism.

Identification of KIF 21 A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 ( CFEOM 3 )

P. Mullaney, J. Demer, D. Mackey, 2004 .

Nonprogressive Familial Leukoencephalopathy With Porencephalic Cyst and Focal Seizures

D. Lev, B. Ben-Zeev, T. Lerman-Sagie, 2006, Journal of child neurology.

Inborn errors of metabolism

B. Ben-Zeev, T. Lerman-Sagie, A. Nissenkorn, 2001, Neurology.

A cause of abnormal brain development

B. Ben-Zeev, T. Lerman-Sagie, A. Nissenkorn, 2001 .

Treatment with brivaracetam in children – The experience of a pediatric epilepsy center

B. Ben-Zeev, O. Bar-Yosef, A. Nissenkorn, 2019, Epilepsy & Behavior.

Vici syndrome in Israel: Clinical and molecular insights

H. Mandel, N. Fleischer, B. Pode-Shakked, 2022, Frontiers in Genetics.

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

Doron Sagiv, D. Lancet, E. Eyal, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Severe classical congenital muscular dystrophy and merosin expression

V. Jay, D. Chitayat, L. Becker, 1998, Clinical genetics.

Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.

Y. Anikster, B. Ben-Zeev, T. Falik-Zaccai, 2006, The Journal of clinical endocrinology and metabolism.

Medical Cannabis for Intractable Epilepsy in Childhood: A Review

B. Ben-Zeev, 2020, Rambam Maimonides medical journal.

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

H. Mandel, Y. Anikster, E. Christensen, 1996, American journal of human genetics.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

E. Leshinsky‐Silver, D. Lev, O. Birk, 2014, Journal of Medical Genetics.

Aminoaciduria resulting from vigabatrin administration in children with epilepsy.

B. Ben-Zeev, B. Sela, E. Lahat, 1999, Pediatric neurology.

Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter.

B. Attali, B. Ben-Zeev, G. Heimer, 2021, Epileptic disorders : international epilepsy journal with videotape.

Inborn errors of metabolism: A cause of abnormal brain development

B. Ben-Zeev, T. Lerman-Sagie, A. Nissenkorn, 2001 .

A forgotten alternative: Bromides for refractory status epilepticus

B. Ben-Zeev, G. Paret, N. Horesh, 2013, Journal of Pediatric Intensive Care.

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

D. Lev, A. Schweiger, Y. Anikster, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

W. Gahl, C. Ferreira, M. Davids, 2019, Molecular genetics and metabolism.

Transient Oromotor Deficits in Children with Benign Childhood Epilepsy with Central Temporal Spikes

B. Ben-Zeev, S. Harel, U. Kramer, 2001, Epilepsia.

Malignant migrating partial seizures in infancy.

Bruria Ben-Zeev, R. Shalev, V. Gross‐Tsur, 2004, Pediatric neurology.

Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

Y. Shiloh, Nir Giladi, S. Gilad, 1999, Journal of Neurology.

Vacuolating Megalencephalic Leukoencephalopathy in 12 Israeli Patients

B. Ben-Zeev, T. Kushnir, N. Brand, 2001, Journal of child neurology.

Features , mutational hot spots , and ezogabine treatment of 11 patients

L. Carmant, V. Narayanan, M. Patterson, 2022 .

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

O. Barel, Y. Anikster, B. Ben-Zeev, 2020, Molecular genetics and metabolism reports.

An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies

S. Greenberger, B. Ben-Zeev, M. Tzadok, 2021, Child's Nervous System.

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report

A. Lahad, B. Weiss, R. Somech, 2016, Journal of pediatric gastroenterology and nutrition.

Neurite density of white matter significantly correlates with tuberous sclerosis complex disease severity

D. Anaby, B. Ben-Zeev, S. Shrot, 2022, NeuroImage: Clinical.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Robert W. Taylor, D. Wallace, C. Toro, 2018, Human mutation.

In the eye of the beholder: Using a multiple-informant approach to examine the mediating effect of cognitive functioning on emotional and behavioral problems in children with an active epilepsy

R. Geva, B. Ben-Zeev, O. Bar-Yosef, 2020, Seizure.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Edward L. Huttlin, J. Mullikin, T. Meitinger, 2017, American journal of human genetics.

Unilateral Rhythmic Hand Tapping in Rett Syndrome

B. Ben-Zeev, A. Nissenkorn, 2013, Journal of child neurology.

Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging

B. Ben-Zeev, S. Shrot, C. Hoffmann, 2021, Neuroradiology.

Movement Disorder in Ataxia-Telangiectasia

S. Hassin-Baer, B. Ben-Zeev, A. Nissenkorn, 2013, Journal of child neurology.

The Israeli retrospective multicenter open-label study evaluating vagus nerve stimulation efficacy in children and adults.

Y. Schiller, B. Ben-Zeev, I. Korn‐Lubetzki, 2013, The Israel Medical Association journal : IMAJ.

Dual array EEG-fMRI: An approach for motion artifact suppression in EEG recorded simultaneously with fMRI

Talma Hendler, Itzhak Fried, Yuval Harpaz, 2016, NeuroImage.

NG.O.12 A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

J. Niederhuber, T. Vilboux, H. Pri-Chen, 2017, Neuromuscular Disorders.

Carbamazepine versus Sulthiame in Treating Benign Childhood Epilepsy With Centrotemporal Spikes

E. Shahar, Y. Nevo, B. Ben-Zeev, 2002, Journal of child neurology.

Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2

C. Behrends, B. Ben-Zeev, Z. Elazar, 2020, Autophagy.

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

M. Rubinstein, B. Ben-Zeev, M. Brusel, 2019, PloS one.

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

M. D. Del Bigio, D. Chitayat, A. Toi, 1994, American journal of medical genetics.

Gene panels for epilepsy suggest that previously defined variants of unknown significance may play an important role in epilepsy and certain variants may be pathogenic when occurring together

Shani Stern, B. Ben-Zeev, Hila Weisblum-Neuman, 2023, medRxiv.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells.

M. Glikson, B. Ben-Zeev, U. Katz, 2016, Pediatric neurology.

Development of global rating instruments for pediatric patients with ataxia telangiectasia.

R. Micheli, R. Borgohain, B. Ben-Zeev, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.