R. Spiegel

发表

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Robert W. Taylor, H. Mandel, P. Yu-Wai-Man, 2015, Journal of Medical Genetics.

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

S. Ellard, L. de Vries, R. Spiegel, 2011, American journal of medical genetics. Part A.

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

J. Heinisch, N. Raben, P. Plotz, 1995, American journal of human genetics.

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

H. Mandel, R. Spiegel, S. Shalev, 2005, Molecular genetics and metabolism.

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

S. Berkovic, D. Lev, J. Serratosa, 2007, Epilepsia.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

G. Caridi, F. Lugani, M. Galliano, 2013, European journal of clinical investigation.

Eosinophilic Pericarditis—A Rare Complication of Idiopathic Hypereosinophilic Syndrome in a Child

D. Fink, R. Spiegel, D. Miron, 2004, Pediatric Cardiology.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy

W. Newman, S. Bhaskar, A. Azem, 2017, American journal of medical genetics. Part A.

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

Ann Saada, A. Shaag, O. Elpeleg, 2016, JIMD reports.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

A. Vanderver, C. Bodemer, B. Gener, 2013, The Lancet Neurology.

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

R. Spiegel, S. Curelaru, Y. Zehavi, 2021, Molecular genetics and metabolism reports.

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

R. Spiegel, H. Garzozi, A. Abbasi, 2009, American journal of medical genetics. Part A.

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

A. Ishida-Yamamoto, D. Geiger, M. Indelman, 2008, American journal of human genetics.

Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial

G. Pillar, A. Nahum, R. Lubetzky, 2020, Scientific Reports.

Progress and problems in muscle glycogenoses

S. Dimauro, R. Spiegel, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

L. Feuk, Ann Saada, S. Zenvirt, 2012, American journal of human genetics.

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

H. Mandel, A. Shaag, O. Elpeleg, 2017, European journal of medical genetics.

Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

E. Pras, R. Spiegel, S. Shalev, 2016, Journal of Genetic Counseling.

The clinical spectrum of fetal Niemann–Pick type C

V. Meiner, A. Raas-Rothschild, R. Spiegel, 2009, American journal of medical genetics. Part A.

Molybdenum cofactor deficiency: A natural history

R. Spiegel, B. Schwahn, L. Squires, 2022, Journal of inherited metabolic disease.

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis.

R. Spiegel, Y. Horovitz, L. Zalman, 2003, Journal of pediatric hematology/oncology.

The Variable Clinical Phenotype of Liver Glycogen Synthase Deficiency

M. Orho-Melander, R. Spiegel, D. Miron, 2007, Journal of pediatric endocrinology & metabolism : JPEM.

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

H. Mandel, S. Ravid, Ann Saada, 2019, Metabolic Brain Disease.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

S. Dimauro, H. Akman, R. Spiegel, 2009, Neuromuscular Disorders.

Severe infantile male encephalopathy is a result of early post‐zygotic WDR45 somatic mutation

D. Bercovich, A. Shaag, O. Elpeleg, 2016, Clinical genetics.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

E. Bertini, R. Borgatti, R. Hennekam, 2012, Orphanet Journal of Rare Diseases.

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

E. Bertini, B. Bernardi, E. Valente, 2013, neurogenetics.

A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation

P. Kishnani, R. Spiegel, S. Curelaru, 2022, Molecular genetics and metabolism reports.

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

B. Pode-Shakked, Y. Anikster, R. Spiegel, 2021, Orphanet Journal of Rare Diseases.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

A. Shaag, O. Elpeleg, R. Spiegel, 2016, neurogenetics.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

H. Mandel, S. Edvardson, A. Shaag, 2009, Annals of neurology.

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

H. Mandel, S. Korman, Ann Saada, 2010, Journal of Medical Genetics.

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-causing mutations

Shani Stern, A. Choudhary, R. Spiegel, 2022 .

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

M. Vikkula, E. Shalev, E. Weiner, 2005, Prenatal diagnosis.

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

J. Naggert, R. Spiegel, S. Shalev, 2013, Pediatric Cardiology.

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

S. Almashanu, D. Bercovich, R. Spiegel, 2020, European Thyroid Journal.

Kawasaki Disease in Very Young Infants: High Prevalence of Atypical Presentation and Coronary Arteritis

D. Fink, R. Spiegel, D. Miron, 2003, Clinical pediatrics.

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

H. Mandel, Ann Saada, A. Shaag, 2009, European Journal of Human Genetics.

Primary autoimmune myelofibrosis: A case report in a child

R. Spiegel, S. Yeganeh, H. Eitam, 2020, EJHaem.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-causing mutations

Shani Stern, A. Choudhary, R. Spiegel, 2022, bioRxiv.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Robert W. Taylor, R. Artuch, N. Darín, 2017, Annals of neurology.

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.

Galit Tal, R. Spiegel, W. Sakran, 2019, The Israel Medical Association journal : IMAJ.

Pseudomonas stutzeri knee arthritis in a child: case report and review

R. Spiegel, D. Miron, Y. Horowitz, 2007, Journal of pediatric orthopedics. Part B.

Acute neonatal suppurative parotitis: case reports and review.

R. Spiegel, D. Miron, Y. Horovitz, 2004, The Pediatric infectious disease journal.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

O. Sarig, N. Shomron, M. Simpson, 2013, Nature Genetics.

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

E. Sprecher, R. Spiegel, S. Shalev, 2010, European journal of endocrinology.

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

S. Almashanu, H. Mandel, A. Luder, 2016, Journal of Inherited Metabolic Disease.

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations

Shani Stern, A. Choudhary, R. Spiegel, 2023, bioRxiv.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

H. Mandel, M. Indelman, E. Sprecher, 2014, European journal of medical genetics.

Sixth Nerve Palsy in Children Etiology, Long-Term Course, and a Diagnostic Algorithm

R. Spiegel, W. Sakran, H. Jabaly-Habib, 2021, Journal of child neurology.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

L. Feuk, Ann Saada, S. Edvardson, 2013, European Journal of Human Genetics.

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

R. Spiegel, S. Shalev, Z. Borochowitz, 2012, European journal of medical genetics.

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

A. Harel, A. Shaag, O. Elpeleg, 2019, Nature Communications.

[Pyogenic liver abscess in children].

R. Spiegel, D. Miron, Y. Horovitz, 1997, Harefuah.

Encysted peritoneal hydatidosis in a child — the effectiveness of pre-operative therapy with a combination of praziquantel and albendazole

R. Spiegel, D. Miron, Y. Horovitz, 2005, Annals of tropical medicine and parasitology.

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2020, Journal of inherited metabolic disease.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

E. Bertini, R. Borgatti, T. Mazza, 2014, Human Genetics.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Ludevit Kadasi, Jan Radvanszky, Andrea Zatkova, 2015, European Journal of Human Genetics.

Severe Meningoencephalitis Due to Late Reactivation of Varicella-Zoster Virus in an Immunocompetent Child

R. Spiegel, D. Miron, Y. Horovitz, 2010, Journal of child neurology.

Late Relapse of Herpes Simplex Virus Encephalitis in a Child Due to Reactivation of Latent Virus: Clinicopathological Report and Review

R. Spiegel, D. Miron, Y. Horovitz, 2008, Journal of child neurology.

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.

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

H. Mandel, D. Goldsher, J. Gomori, 2014, European Journal of Human Genetics.

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3

M. Vikkula, R. Spiegel, S. Shalev, 2006, Journal of Human Genetics.

Association of chronic symptomatic neutropenia with the triple A syndrome.

A. Huebner, R. Spiegel, S. Shalev, 2005, Journal of pediatric hematology/oncology.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.

O. Sarig, J. Uitto, E. Sprecher, 2012, American journal of human genetics.

Mucolipidosis III Gamma

R. Spiegel, A. Raas‐Rothschild, 2012 .

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2022, Journal of inherited metabolic disease.

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

M. Veiga-da-Cunha, R. Spiegel, A. Sabag, 2022, Frontiers in Pediatrics.

Expanding the clinical spectrum of SLC29A3 gene defects.

Y. Crow, W. Newman, R. Spiegel, 2010, European journal of medical genetics.

Establishing hospital admission criteria of pediatric Henoch–Schonlein purpura

A. Avital, R. Spiegel, Y. Horovitz, 2014, Rheumatology International.

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

M. Khayat, R. Spiegel, S. Shalev, 2016, International journal of rheumatic diseases.

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

F. Erdogan, H. Peters, R. Spiegel, 2009, American journal of medical genetics. Part A.

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Ariel Gutstein, A. Kurolap, R. Spiegel, 2019, Molecular genetics and metabolism.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Andrea Klein, Barbara Plecko, S. Papuc, 2017, PloS one.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Ann Saada, M. Dessau, A. Shaag, 2021, Metabolic Brain Disease.

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

M. Khayat, R. Spiegel, S. Shalev, 2013, Gene.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

E. Bertini, R. Carrozzo, A. Kessel, 2019, Journal of inherited metabolic disease.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Y. Shapira, A. Engel, N. Orenstein, 2015, Neuromuscular Disorders.

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

E. Bertini, B. Bernardi, E. Valente, 2013, neurogenetics.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria

R. Barker, M. Zeviani, H. Laman, 2021, bioRxiv.

West Nile virus meningoencephalitis complicated by motor aphasia in Hodgkin's lymphoma

R. Spiegel, D. Miron, Y. Horovitz, 2002, Archives of disease in childhood.

Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene.

A. Harel, A. Urbach, R. Spiegel, 2021, Stem cell research.

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations

Shani Stern, A. Choudhary, R. Spiegel, 2023, bioRxiv.

Hereditary orotic aciduria identified by newborn screening

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2023, Frontiers in Genetics.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

A. Shaag, O. Elpeleg, R. Spiegel, 2016, neurogenetics.

"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease.

R. Spiegel, I. Garty, Y. Horovitz, 2003, Clinical nuclear medicine.

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

R. Spiegel, R. Halevy, W. Sakran, 2019, European journal of medical genetics.

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay

M. Dessau, O. Elpeleg, M. Khayat, 2022, Frontiers in Pediatrics.

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.

D. Lev, N. Matsumoto, H. Saitsu, 2020, European journal of medical genetics.

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency

S. Dimauro, H. Akman, R. Spiegel, 2014, Movement disorders clinical practice.

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

R. Spiegel, S. Shalev, J. Hall, 2005, American journal of medical genetics. Part A.

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

M. Schuelke, R. Spiegel, R. Straussberg, 2017, Metabolic Brain Disease.

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial

Sharon H. Hrynkow, M. Paucar, R. Spiegel, 2023, Molecular genetics and metabolism reports.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

L. Feuk, Ann Saada, S. Edvardson, 2013, European Journal of Human Genetics.