J. Zaremba

发表

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

William B Dobyns, Allison Brashear, S. Bressman, 2004, Neuron.

Familial 15q11.2 Micro deletions are not Fully Penetrant in Two Cases with Hereditary Spastic Paraplegia and Dysmorphic Features

D. Hoffman-Zacharska, J. Zaremba, A. Sulek, 2014 .

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.

C. Żekanowski, J. Zaremba, E. Lewandowska, 2014, Folia neuropathologica.

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias

A. Klimkowicz-Mrowiec, J. Zaremba, I. Stępniak, 2021, Journal of Applied Genetics.

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease

P. Bauer, P. Ribai, M. Pandolfo, 2006, Neurogenetics.

Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY

Alexander Münchau, Caroline Hallam, Andrea Ciarmiello, 2011, PLoS currents.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13

L. Ozelius, P. Kramer, A. Brashear, 2004, Movement disorders : official journal of the Movement Disorder Society.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3

L. Petrucelli, J. Friedman, R. Uitti, 2021, Parkinsonism & related disorders.

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

E. Jamroz, M. Pronicki, J. Wierzba, 2013, Mitochondrion.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

J. Pilch, J. Zimowski, J. Zaremba, 2017, Journal of Applied Genetics.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

J. Pilch, C. Beetz, M. Rudzińska, 2015, Journal of the Neurological Sciences.

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

J. Zaremba, A. Jozwiak, L. Korniszewski, 2010, Journal of Applied Genetics.

Hereditary form of prion disease in Poland.

J. Zimowski, W. Lojkowska, J. Zaremba, 2012, Neurologia i neurochirurgia polska.

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.

I. Hausmanowa-Petrusewicz, J. Zimowski, J. Zaremba, 1993, Acta neurobiologiae experimentalis.

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

A. Kaminska, D. Massalska, J. Zimowski, 2014, Neurologia i neurochirurgia polska.

Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.

I. Hausmanowa-Petrusewicz, J. Zaremba, W. Szirkowiec, 1984, Journal of medical genetics.

Unaffected patients with a homozygous absence of the SMN1 gene

W. Nyka, I. Hausmanowa-Petrusewicz, M. Jędrzejowska, 2008, European Journal of Human Genetics.

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

J. Zimowski, J. Zaremba, W. Szirkowiec, 2017, Journal of Human Genetics.

Proximal Spinal Muscular Atrophy of Childhood

I. Hausmanowa-Petrusewicz, J. Zaremba, 2000 .

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

J. Zimowski, J. Zaremba, M. Pawelec, 2021, Journal of Applied Genetics.

Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

S. Feil, W. Berger, J. Zaremba, 1998, Ophthalmic genetics.

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

T. Roszkowski, B. Schmidt-Sidor, V. van Heyningen, 2009, Folia neuropathologica.

Jadassohn's naevus phakomatosis: 2. A study based on a review of thirty-seven cases.

J. Zaremba, 2008, Journal of mental deficiency research.

Jadassohn's naevus phakomatosis: I. A report of two cases.

J. Zaremba, J. Bidziński, J. Kansy, 2008, Journal of mental deficiency research.

First of two parts

Finland., J. Finsterer, M. Rossor, 2001 .

EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts

J. Finsterer, M. Rossor, M. Zeviani, 2001, European journal of neurology.

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

M. Ferguson-Smith, I. Hausmanowa-Petrusewicz, J. Yates, 1986, Journal of medical genetics.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Alexander Münchau, Christine Klein, William B Dobyns, 2007, Brain : a journal of neurology.

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Thomas Eggermann, Hartmut Engels, A. Latos-Bieleńska, 2008, American journal of medical genetics. Part A.

Two neoplasms rich in small lymphocytes, B1B2 thymoma and small lymphocytic lymphoma, intermingled in one tumor mass. A case report.

J. Zaremba, D. Kowalski, M. Prochorec-Sobieszek, 2017, Polish journal of pathology : official journal of the Polish Society of Pathologists.

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

M. Ferguson-Smith, I. Hausmanowa-Petrusewicz, J. Yates, 1993, Journal of medical genetics.

Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.

S. Karsten, U. Pettersson, M. Bondeson, 1997, Genomics.

High relative frequency of SCA1 in Poland reflecting a potential founder effect

J. Zaremba, W. Krysa, W. Szirkowiec, 2016, Neurological Sciences.

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

J. Zaremba, M. Rajkiewicz, W. Szirkowiec, 2010, Neurologia i neurochirurgia polska.

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

T. Trojanowski, J. Zaremba, A. Drelich-Zbroja, 2015, Neurologia i neurochirurgia polska.

Prenatal diagnosis of Sanfilippo disease type B

J. Zaremba, W. Blom, J. Kubalska, 2004, Human Genetics.

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

W. Kleijer, J. Zaremba, Wang He, 1994, Prenatal diagnosis.

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

D. Hoffman-Zacharska, J. Zaremba, W. Krysa, 2008, Neurologia i neurochirurgia polska.

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

A. Kaminska, H. Kwiecinski, J. Zaremba, 2018, Neurologia i neurochirurgia polska.

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

A. Kaminska, H. Kwiecinski, J. Zaremba, 2018, Neurologia i neurochirurgia polska.

Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland — a Study on the 563 and 1311 Mutations of the G6PD Gene

J. Zimowski, D. Hoffman-Zacharska, J. Zaremba, 1997, European journal of human genetics : EJHG.

The study on the occurrence of the 22q11.2 deletion in patients affected with a psychiatric disease

J. Wciórka, J. Zaremba, W. Szirkowiec, 2008 .

[A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease].

J. Wciórka, T. Szafranski, J. Zaremba, 2007, Psychiatria polska.

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

E. Bakker, J. Smeitink, A. Reuser, 1996, Clinical genetics.

Two mutations in one dystrophin gene.

J. Zimowski, J. Zaremba, E. Fidziańska, 2013, Neurologia i neurochirurgia polska.

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy

I. Hausmanowa-Petrusewicz, J. Zimowski, I. Niebroj-Dobosz, 1997, European journal of neurology.

Pathomechanism of secondary morphological lesions in the hypothalamo-hypophyseal system in cases of increased intracranial pressure.

J. Zaremba, Z. Rap, 1971, Polish medical journal.

Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy

I. Hausmanowa-Petrusewicz, J. Zaremba, J. Prot, 1976, Journal of Neurology.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

J. Zaremba, W. Krysa, M. Rajkiewicz, 2013, Neurological Sciences.

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

A. Latos-Bieleńska, J. Zaremba, A. Bąk, 2022, Current issues in molecular biology.

[Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation].

A. Wierzbicka, K. Niedzielska, D. Hoffman-Zacharska, 2005, Neurologia i neurochirurgia polska.

[Clinical picture of spinocerebellar ataxia type I (SCA1)].

K. Niedzielska, D. Hoffman-Zacharska, T. Jakubowska, 2001, Neurologia i neurochirurgia polska.

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.

I. Hausmanowa-Petrusewicz, J. Zaremba, J. Borkowska, 1985, Journal of medical genetics.

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.

S. Radowicki, J. Zaremba, W. Krysa, 2011, European journal of obstetrics, gynecology, and reproductive biology.

Chronic from of childhood spinal muscular atrophy Are the problems of its genetics really solved?

I. Hausmanowa-Petrusewicz, J. Zaremba, J. Borkowska, 1979, Journal of the Neurological Sciences.

[Rapid-onset dystonia-parkinsonism].

J. Zaremba, 2005, Przeglad lekarski.

Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.

B. Poorthuis, W. Kleijer, J. Zaremba, 1992, Journal of medical genetics.

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

D. Hoffman-Zacharska, J. Zaremba, A. Sułek, 2003, American journal of human genetics.

NMDA receptor gene variations as modifiers in Huntington disease: a replication study

J. Schiefer, R. Barker, R. Reilmann, 2011, PLoS currents.

A phenotypic‐genetic study of a group of Polish patients with spinal and bulbar muscular atrophy

M. Banach, B. Tomik, D. Figlewicz, 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

D. Hoffman-Zacharska, J. Zaremba, M. Bednarska-Makaruk, 2004, Journal of applied genetics.

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.

J. Zaremba, W. Krysa, M. Rajkiewicz, 2008, Neurologia i neurochirurgia polska.

Familial occurrence of the LEOPARD syndrome

R. Schwartz, S. Jóźwiak, J. Zaremba, 1998, International journal of dermatology.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

J. Hopwood, W. Kleijer, A. Gal, 1997, Human mutation.

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

M. Rylski, J. Zaremba, Angelika Stapińska-Syniec, 2021, Neuromodulation : journal of the International Neuromodulation Society.

Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease

P. Bauer, M. Pandolfo, H. Lange, 2006, Human Genetics.