R. Mazanec

发表

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

W. Robberecht, A. Kochański, V. Timmerman, 2007, Brain : a journal of neurology.

neuropatie recurrence Quantification analysis of heart rate variability in early diagnosis of diabetic autonomic neuropathy

J. Schlenker, L. Riedlbauchová, T. Nedělka, 2019 .

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

Radim Mazanec, Petr Koukal, Z. Sedlacek, 2009, American journal of medical genetics. Part A.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

G. Bassez, J. Puymirat, H. Lochmüller, 2018, Orphanet Journal of Rare Diseases.

Hereditary motor neuropathies

P. Seeman, Veronika Potockova, R. Mazanec, 2016 .

Mechano-transduction effect of shockwaves in the treatment of lumbar facet joint pain: comparative effectiveness evaluation of shockwave therapy, steroid injections and radiofrequency medial branch neurotomy.

J. Schlenker, T. Nedělka, R. Mazanec, 2014, Neuro endocrinology letters.

Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity

P. Kolář, A. Kobesová, R. Andel, 2012, Neuromuscular Disorders.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

B. Schlotter-Weigel, R. Horvath, J. Weis, 2018, Clinical genetics.

Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus

D. Baumgartner, L. Riedlbauchová, T. Nedělka, 2022, Brain and behavior.

High frequency of SH3TC2 mutations in Czech HMSN I patients

P. Vondracek, P. Seeman, R. Mazanec, 2011, Clinical genetics.

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

P. Seeman, R. Mazanec, J. Haberlová, 2010, Genetic testing and molecular biomarkers.

GDAP1 mutations in Czech families with early-onset CMT

S. Züchner, P. Vondracek, E. Nelis, 2007, Neuromuscular Disorders.

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

K. Huehne, B. Rautenstrauss, P. Seeman, 2009, Journal of Human Genetics.

Spinal Deformities in Hereditary Motor and Sensory Neuropathy: A Retrospective Qualitative, Quantitative, Genotypical, and Familial Analysis of 175 Patients

A. Kobesová, R. Mazanec, C. Morris, 2007, Spine.

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

K. Huehne, B. Rautenstrauss, P. Seeman, 2004, Neurology.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

P. Seeman, R. Mazanec, J. Haberlová, 2016, Clinical genetics.

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

B. Rautenstrauss, P. Seeman, M. Vyhnálek, 2005, Neuromuscular Disorders.

Charcot‐Marie‐Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

B. Rautenstrauss, P. Seeman, R. Mazanec, 1999, Annals of the New York Academy of Sciences.

Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.

C. Sommer, F. Zimprich, W. Löscher, 2021, Brain : a journal of neurology.

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

G. Nürnberg, P. Nürnberg, K. Huehne, 2011, Journal of neurogenetics.

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

S. Züchner, Michael A. Gonzalez, P. Seeman, 2016, Brain : a journal of neurology.

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

M. Hermanová, K. Stehlikova, P. Vondracek, 2014, BMC Neurology.

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

P. Seeman, R. Mazanec, I. Sakmaryová, 2013, neurogenetics.

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

Yunhong Bai, M. Shy, Jun Li, 2006, Archives of neurology.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

K. Stehlikova, P. Vondracek, L. Fajkusová, 2017, Clinical genetics.

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

R. Mazanec, H. Vlaskova, Z. Mušová, 2019, Journal of Neurology.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

[Granulomatous myopathy in patients with sarcoidosis and myasthenia gravis].

E. Ehler, J. Zamecnik, R. Mazanec, 2006, Ceskoslovenska patologie.

Ulnar nerve at the elbow – normative nerve conduction study

E. Ehler, P. Otruba, B. Procházka, 2013, Journal of Brachial Plexus and Peripheral Nerve Injury.

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

M. Hermanová, P. Vondracek, L. Fajkusová, 2004, Neuromuscular Disorders.

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

M. Hermanová, P. Vondracek, R. Gaillyová, 2007, European journal of neurology.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

P. Seeman, R. Mazanec, P. Laššuthová, 2013, Molecular medicine reports.

Charcot–Marie–Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype – Usefulness of human mapping chip linkage analysis in a Czech family

S. Nevsimalova, B. Rautenstrauss, P. Seeman, 2012, Neuromuscular Disorders.

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

P. Seeman, R. Mazanec, Jiří Böhm, 2011, Muscle & nerve.

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

C. Broeckhoven, W. Robberecht, J. Vandekerckhove, 2004, Nature Genetics.

Lower urinary tract functions in a series of Charcot–Marie–Tooth neuropathy patients

J. Krhut, P. Zvára, P. Seeman, 2014, Acta neurologica Scandinavica.

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

K. Réblová, P. Vondracek, L. Fajkusová, 2013, PloS one.

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.

J. Zidar, B. Rautenstrauss, P. Seeman, 2000, International journal of molecular medicine.

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

P. Seeman, R. Mazanec, P. Laššuthová, 2016, Orphanet Journal of Rare Diseases.

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

P. Seeman, J. Zamecnik, J. Garbern, 2014, Journal of child neurology.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay

M. Hermanová, K. Stehlikova, E. Zapletalová, 2007, Neuromuscular Disorders.

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

M. Hermanová, E. Zapletalová, P. Vondracek, 2006, Muscle & nerve.

Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis

H. Vogel, J. Zamecnik, R. Mazanec, 2007, Neuromuscular Disorders.

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

P. Seeman, R. Mazanec, P. Laššuthová, 2014, neurogenetics.

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

P. Seeman, R. Mazanec, L. Sedláčková, 2021, Scientific Reports.

Movement Activities in Patients with Inherited Polyneuropathy

R. Mazanec, A. Kobesova, 2020 .

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Autologous Bone Marrow Transplantation in Patients with Subacute and Chronic Spinal Cord Injury

J. Neuwirth, M. Bojar, V. Komrska, 2006, Cell transplantation.

Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease.

P. Kolář, R. Andel, R. Mazanec, 2016, Journal of hand therapy : official journal of the American Society of Hand Therapists.

Autologous bone marrow transplantation in patients with subacute and chronic spinal cord injury.

J. Neuwirth, M. Bojar, V. Komrska, 2006, Cell transplantation.

Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients

Z. Sedlacek, J. Roth, J. Klempír, 2013, The Cerebellum.

Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross‐sectional study

C. Sommer, N. Üçeyler, J. Bělobrádková, 2021, European journal of pain.

Atrophy of type II fibres in myasthenia gravis muscle in thymectomized patients: steroid‐induced change with prognostic impact

J. Zamecnik, R. Mazanec, J. Piťha, 2009, Journal of cellular and molecular medicine.

Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies

R. Mazanec, J. Hanzalová, D. Baumgartner, 2022, Journal of Neurology.

Diagnostics algorithm of muscular dystrophies

Veronika Potočková, Daniel Baumgartner, Radim Mazanec, 2019, Neurologie pro praxi.

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

P. Seeman, R. Mazanec, I. Sakmaryová, 2009, Clinical genetics.

Genetic findings in Czech patients with limb girdle muscular dystrophy

K. Réblová, L. Fajkusová, S. Voháňka, 2023, Clinical genetics.

Nationwide screening of Pompe disease in patients with unspecified muscle weakness, hyperCKemia, and respiratory insufficiency: preliminary results

Olesja Parmová, S. Voháňka, R. Mazanec, 2020, Neurologie pro praxi.

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

J. Hardin, D. Stickler, R. Mazanec, 2011, Muscle & nerve.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

High frequency of SH3TC2 mutations in Czech HMSN I patients

P. Seeman, R. Mazanec, P. Laššuthová, 2011, Clinical genetics.

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

M. Trková, P. Seeman, M. Vyhnálek, 2019, Journal of Clinical Neuroscience.