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Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division

International journal of molecular sciences, 2020-10, Vol.21 (21), p.8040

2020

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

PLoS genetics, 2011-12, Vol.7 (12), p.e1002427-e1002427

2011

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Vici syndrome in Israel: Clinical and molecular insights

Frontiers in genetics, 2022-09, Vol.13, p.991721-991721

2022

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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.90-90, Article 90

2013

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Hereditary orotic aciduria identified by newborn screening

Frontiers in genetics, 2023-03, Vol.14, p.1135267-1135267

2023

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Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

Journal of personalized medicine, 2021-10, Vol.11 (11), p.1105

2021

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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100699-100699, Article 100699

2021

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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines, 2021-07, Vol.9 (7), p.788

2021

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Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Journal of hepatology, 2010-02, Vol.52 (2), p.292-295

2010

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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Pediatric neurology, 2014-04, Vol.50 (4), p.421-426

2014

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Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

Neurology, 2013-08, Vol.81 (9), p.849

2013

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Nature genetics, 2001-11, Vol.29 (3), p.342-344

2001

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840

2014

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Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease

Clinical therapeutics, 2008, Vol.30, p.S9-S10

2008

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

European journal of medical genetics, 2017-06, Vol.60 (6), p.317-320

2017

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Longer Survival by Enzyme Replacement Therapy Unmasks the Underrecognition of Otoneurologic Involvement in Infantile-Onset Pompe Disease

Clinical therapeutics, 2007, Vol.29, p.S109-S110

2007

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Nature genetics, 2001-11, Vol.29 (3), p.337-341

2001

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A novel homozygous splice site mutation in NALCN identified in siblings with Cachexia, Strabismus, Severe Intellectual Disability, Epilepsy and Abnormal Respiratory Rhythm

European journal of medical genetics, 2016-04, Vol.59 (4), p.204-209

2016

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A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman Disease

The American journal of dermatopathology, 2011-02, Vol.33 (1), p.47-51

2011

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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

American journal of human genetics, 2012-04, Vol.90 (4), p.708-714

2012

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Role of macrophage glycosaminoglycans in the cellular catabolism of oxidized LDL by macrophages

Arteriosclerosis, thrombosis, and vascular biology, 1998-04, Vol.18 (4), p.542

1998

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

European journal of medical genetics, 2014-11, Vol.57 (11), p.607-612

2014

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Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

Prenatal diagnosis, 1999-08, Vol.19 (8), p.717-720

1999

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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Nature genetics, 1999-07, Vol.22 (3), p.300-304

1999

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Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Vici syndrome in Israel: Clinical and molecular insights

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

Hereditary orotic aciduria identified by newborn screening

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease

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

Longer Survival by Enzyme Replacement Therapy Unmasks the Underrecognition of Otoneurologic Involvement in Infantile-Onset Pompe Disease

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

A novel homozygous splice site mutation in NALCN identified in siblings with Cachexia, Strabismus, Severe Intellectual Disability, Epilepsy and Abnormal Respiratory Rhythm

A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman Disease

Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

Role of macrophage glycosaminoglycans in the cellular catabolism of oxidized LDL by macrophages

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

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

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