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List of works by Irena Hausmanowa-Petrusewicz

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

A case of Duchenne type of progessive muscular dystrophy verified by postmortem examination

scientific article published on 01 January 1968

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

scientific article published on 01 February 1997

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

scientific article published on 01 December 1998

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

scientific article published on December 2013

A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis ⬇️

scientific article published on October 5, 2012

A nearest neighbour decision rule for EMG detection of carriers of Duchenne muscular dystrophy

scientific article published on 01 October 1982

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

scientific article published on 02 March 2011

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

scientific article published on June 2004

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

scientific article

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

scientific article published on 01 February 2001

A novel desmin R355P mutation causes cardiac and skeletal myopathy

scientific article published in August 2005

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

scientific article published in March 2004

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

scientific article published on 11 March 2008

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

scientific article published on 22 October 2014

Abnormal nerve conduction velocity as a marker of immaturity in childhood muscle spinal atrophy

scientific article published on 01 January 2002

Advances in basic and clinical research in laminopathies

scientific article published on May 2013

Age-related change in duration of afterhyperpolarization of human motoneurones.

scientific article published on 11 October 2007

Amyotrophic lateral sclerosis: a dying motor unit?

scientific article published on 26 March 2013

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

scientific article published in March 2004

An evaluation of the method of antidromic stimulation in human peripheral motor nerves

scientific article published on 01 May 1968

Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I–III from the Point of View of Progression and Severity ⬇️

scientific article published on January 1, 1998

Analysis of double discharges in amyotrophic lateral sclerosis.

scientific article

Anti-neural antibodies in serum and cerebrospinal fluid of amyotrophic lateral sclerosis (ALS) patients

scientific article published on 01 October 1999

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

scientific article published in March 2005

Application of automatic analysis of electromyogram in clinical practice

scientific article published on March 1, 1978

Application of harmonic analysis in the evaluation of electromyographic records

scientific article published on 01 September 1966

Approximation of motor unit structure from the analysis of motor unit potential

scientific article published on 10 September 2008

Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD ⬇️

scientific article published on June 15, 2003

Are motoneurons involved in muscular dystrophy?

scientific article published on 01 June 1999

Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy

scientific article published in April 1987

Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD)

scientific article published on 07 October 2005

Autoimmunity in Concurrent Myasthenia Gravis and Pemphigus Erythematosus ⬇️

scientific article published in March 1968

Automatic measurement of some EMG parameters

scientific article published on 01 October 1968

Automatic measurement of the distribution of the duration of motor unit potentials in the electromyographic record

scientific article published on 01 July 1969

Automatic measurements of the distribution of duration of motor unit potentials in electromyographic records

scientific article published in January 1969

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

scientific article published on 01 June 2005

Behavior of latency period of muscle evoked potentials in relation to the intensity of motor nerve stimulation

scientific article published on 01 November 1967

Between Prohibition and taboo: should there be limits to scientific inquisitiveness?

scientific article

Biochemical disorders in muscle diseases. 3. Processes of final combustion in the blood of family members of patients with progressive muscular dystrophy

scientific article published on 01 January 1965

Biochemical disorders in muscle diseases. II. Processes of final combustion in blood in progressive muscular dystrophy

scientific article published on 01 January 1965

Bioelectric characteristics of spinal muscular atrophy

scientific article published on 01 March 1983

Blood clotting factors in cerebrospinal fluid

scientific article

CO-EXISTENCE OF PERIODIC PARALYSIS AND HYPERTHYROIDISM

scientific article published on 01 July 1963

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

scientific article published on 01 March 1999

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.

scientific article published on 17 November 2015

Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD)

scientific article published on 17 March 2014

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

scientific article published on October 2007

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

scientific article published on January 2008

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

scientific article published in January 2010

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

scientific article

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

scientific article

Chronic acquired demyelinating motor neuropathy ⬇️

scientific article published on 01 July 1991

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

scientific article published on 01 October 1979

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

scientific article

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

scientific article

Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy

scientific article

Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy

scientific article published on 05 May 2011

Clinical variability of infantile and juvenile forms of spinal muscular atrophy

scientific article published on 01 January 1966

Clinical, serologic, and immunogenetic features in polish patients with idiopathic inflammatory myopathies

scientific article published on 01 July 1997

Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology

scientific article published on 08 January 2004

Coexistence of scleromyositis associated with PM-Scl antibody and myasthenia

scientific article published on 01 March 1995

Comparison of electromyographic pictures of various forms of circumscribed scleroderma

scientific article published on 01 January 1966

Computer analysis of the EMG and clinical results

scientific article published on 01 March 1983

Conduction velocity changes in peripheral nerves in the acute stage of the Guillain-Barre syndrome

scientific article published on March 1, 1978

Contemporary classification of primarily muscular diseases (myopathy)

scientific article published on 01 September 1965

Contemporary views on diabetic neuropathy

scientific article published in January 1971

Controversies about the function of dystrophin in muscle

scientific article

Correlating motor unit morphology with bioelectrical activity - A simulation study

scientific article published on 16 November 2017

Correlation between electromyographic findings and muscle biopsy in cases of neuromuscular disease ⬇️

scientific article published on 01 May 1971

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

scientific article published on 01 March 1997

Detection of dystrophin gene mutation carrier state

scientific article published in March 1996

Determination of maximum and minimum conduction velocity in motor nerves in peripheral neuron involvement

scientific article published on 01 March 1972

Diagnostic value of satellite potentials in clinical EMG

scientific article published on 01 November 1997

Diagnostic yield of an automated method of quantitative electromyography

scientific article published in November 1985

Diagnostic yield of quantitative electromyography and muscle biopsy in myopathic diseases (report of 464 cases)

scientific article published on 01 January 1984

Disintegration of the motor unit in post-polio syndrome. Part I. Electrophysiological findings in patients after poliomyelitis

scientific article published on 01 November 1990

Disintegration of the motor unit in post-polio syndrome. Part II. Electrophysiological findings in patients with post-polio syndrome

scientific article published in December 1990

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes ⬇️

scientific article published on July 13, 2011

Double discharges of motor units in neuromuscular disorders

scientific article published on 01 January 1999

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy.

scientific article published in January 2017

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

scientific article published on 3 November 2010

Dystrophinopathies in females

scientific article published on 01 January 2000

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts

scientific article

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

scientific article

ELECTROMYOGRAPHIC CHANGES IN DISTAL NERVES ASSOCIATED WITH PROXIMAL MUSCULAR ATROPHY

scientific article published on 01 September 1964

ELECTROMYOGRAPHIC CHANGES IN RHEUMATIC FEVER

scientific article published on September 1964

EMG parameters changes in the effort pattern at various load in dystrophic muscle

scientific article published on 01 January 1984

EMG parameters changes in the effort pattern at various loads in diseased muscle

scientific article published on 01 March 1983

Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival

scientific article

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

scientific article published in June 2006

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

scientific article

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

scientific article published on 09 April 2014

Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy

scientific article published on 01 July 2005

Effectiveness of motor unit potentials classification using various parameters and indexes

scientific article published on 01 August 2000

Electromyographic aspects of non-progressive myopathies

scientific article published on 01 January 1972

Electromyographic findings in Steinert's disease

scientific article published on 01 May 1982

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

scientific article published on 01 January 1986

Electromyographic findings in scleroderma

scientific article published on 01 March 1961

Electromyographic findings in the so-called non-progressive myopathies

scientific article

Electromyographic findings in various forms of progressive systemic sclerosis

scientific article published on 01 January 1982

Electromyography in neuro-muscular diagnostics

scientific article published on 01 August 1967

Electrophysiologic studies of ulnar nerve injuries in glass blowers

scientific article published on 01 July 1972

Electrophysiological findings in childhood spinal muscular atrophies

scientific article published in January 1988

Electrophysiological studies of peripheral nerves in children with various grades of chronic renal failure

scientific article published on March 22, 1982

Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest

scientific article published on 01 September 2009

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

scientific article published in January 2015

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

scientific article

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

scientific article

Evaluation of MUAP shape irregularity--a new concept of quantification

scientific article published in June 1995

Evaluation of electromyographic recordings in the detection of Duchenne's dystrophy carriers

scientific article published on 01 January 1977

Evaluation of the complexity of motor unit potentials in anal sphincter electromyography

scientific article

Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy

scientific article published on 01 October 2006

Examination of healthy relatives of the patients with Duchenne's progressive muscular dystrophy

scientific article published on 01 November 1966

Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy

scientific article published in September 2003

Familial neuropathy with liability to pressure palsies. Report of a Case ⬇️

scientific article published on 01 August 1981

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

scientific article published on May 2010

Features of motor control in patients with proximal childhood spinal muscle atrophy (pilot study)

scientific article published on 01 September 1993

Fiber density in congenital muscle fiber type disproportion. I. Congenital myopathies

scientific article published on 01 December 1990

Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation

scientific article published on 01 January 1991

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

scientific article published in September 2003

Further Studies Concerning the Detection of Carriership in the Duchenne Type of Dystrophy ⬇️

scientific article published on 01 January 1971

Further studies on electromyographic findings in generalized scleroderma

scientific article published on 01 January 1966

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

scientific article published on October 1976

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

scientific article

Global and detailed features of motor unit potential in myogenic and neurogenic disorders

scientific article published on 01 July 1999

Heterogeneity of the skeletal muscle in the light of present-day data

scientific article published on November 1973

Histogram of muscle potentials recorded automatically with the aid of the averaging computer "ANOPS"

scientific article published on 01 November 1969

Historical view on the development of knowledge about myasthenia gravis. (Introduction to a symposium)

scientific article published on May 1, 1970

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

scientific article published on 01 April 1993

In memoriam: Prof. Georgij Stojanow Uzunow

scientific article published on September 1, 1972

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

scientific article published on 15 January 2010

Infantile and juvenile spinal muscular atrophy ⬇️

scientific article published on 01 March 1968

Interaction in simultaneous motor functions

scientific article published on 01 February 1959

International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data

scientific article published on September 1, 1976

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

scientific article published on 01 January 1993

Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family

scientific article

Investigation on healthy individuals from families of patients with Duchenne type muscular dystrophy

scientific article published on 01 January 1968

Is Kugelberg-Welander spinal muscular atrophy a fetal defect?

scientific article published on 01 September 1980

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

scientific article published on September 2006

Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?

scientific article published in January 2014

Is the normal content of sulfhydryl groups attributable to sparing from dystrophic pathology in dystrophin-deficient muscles?

scientific article

Juvenile motor neuron diseases--the sex influence in benign juvenile pseudodystrophic spinal muscular atrophy

scientific article published on 01 January 1982

Kearns-Sayre syndrome in twins: Lethal dominant mutation or acquired disease? ⬇️

scientific article published on September 1, 1988

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

Laminopathies: a common denominator of many disorders (a new chapter of neuromyology and beyond)

scientific article published in January 2004

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

scientific article published on 01 September 2007

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

scientific article published on September 2016

Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy

scientific article published on January 1995

Localization of the gene for X-linked spinal muscular atrophy

scientific article published on 01 December 1986

Looking for disease being a model of human aging.

scientific article published on October 2007

Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy

scientific article published on 01 January 2015

MU firing characteristics in human dystrophic muscle

scientific article published on 01 January 1993

MUSCLE DISEASES IN THE LIGHT OF MODERN STUDIES

scientific article published on 01 March 1963

Macroemg in manifesting carriers of Duchenne muscular dystrophy

scientific article published on 01 March 1999

Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients

scientific article published on 08 December 2009

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

scientific article published on December 1, 1992

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

scientific article published on 01 February 2005

Modeling studies on irregular motor unit potentials

scientific article

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene

scientific article

Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis

scientific article published on 28 March 2011

Motoneurons are altered in muscular dystrophy

scientific article published on 01 January 1999

Motor nerve conduction velocity and stimulation threshold in man

scientific article published on 01 May 1968

Motor nerve conduction velocity in anterior horn lesions

scientific article published on 01 September 1970

Motor unit potentials with satellites in dystrophinopathies

scientific article published on 28 January 2013

Muscle stiffness and continuous electromyographic activity in old rats; an animal model for spasticity?

scientific article published on 01 November 1992

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Nerve conduction in the Guillain-Barré-Strohl syndrome ⬇️

scientific article published on May 2, 1979

Neurological complications in boxing

scientific article published on 01 December 1959

Neurological symptoms in degenerative rheumatism (cervical spondylarthritis).

scientific article published in August 1958

Nonprogressive myopathies with specific structural changes

scientific article

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

scientific article published on 24 April 2014

O-5. A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland.

scientific article published in July 2009

Obituary: P. E. Becker (1918-2000): life and work

scientific article published on March 1, 2001

Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.

scientific article published on 27 May 2008

On chaos in classification of childhood spinal muscular atrophy

scientific article published on 01 January 1992

On the classification of nonsimple motor unit potentials

scientific article published on 01 June 1999

On-line computer application in clinical quantitative electromyography

scientific article published in January 1976

Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy

scientific article published on 01 December 2011

PROTEIN, LIPOPOTEIN AND GLYCOPROTEIN FRACTIONS OF THE BLOOD SERUM IN MUSCLE DISEASES

scientific article published on 01 March 1963

Pathogenetic treatment of various hereditary extrapyramidal disorders with new drugs

scientific article published on 01 July 1981

Peculiarities of myasthenia gravis in patients with thymoma

scientific article published on January 1, 1975

Peripheral nerve conduction following recovery from Guillain-Barre syndrome

scientific article published on 01 November 1976

Phenotype and genotype correlation in childhood spinal muscular atrophy.

scientific article published in January 2001

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

scientific article (publication date: 2009)

Polish averaging computer "ANOPS" applied for automatic recording of histograms of duration of muscle action potentials

scientific article published on 01 January 1972

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

scientific article published on 12 March 2008

Progeria: a laminopathy of special interest

scientific article

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

scientific article published on 01 November 2009

Progress in the diagnosis of myopathies

scientific article published on 01 January 1975

Proteins of muscle subcellular fractions in Duchenne progressive muscular dystrophy stained with "stains-all" cationic carbocyanine dye and with Coomassie Blue

scientific article published in April 1989

Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA

scientific article published on 01 September 2006

Quantitative evaluation of the motor unit potential complexity

scientific article published on 01 September 1991

Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy

scientific article published on 01 January 2012

Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy ⬇️

scientific article published on January 1, 2013

Role of electromyography in the diagnosis of motor neuron disorders

scientific article published on January 1, 1992

Role of laboratory tests in the diagnosis of muscular diseases

scientific article published on 01 November 1966

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

scientific article (publication date: April 2005)

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

scientific article

Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy

scientific article published on 01 September 1989

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

scientific article published on 15 December 2013

Shape irregularity of motor unit potentials in some neuromuscular disorders ⬇️

scientific article published on 01 September 1998

Silver syndrome--case report

scientific article published in November 2007

Simulation studies on the motor unit potentials with satellite components in amyotrophic lateral sclerosis and spinal muscle atrophy ⬇️

scientific article published on 01 April 2012

Somatic mosaicism in Charcot-Marie-Tooth type X disease

scientific article published on 01 January 2004

Some clinical problems in myasthenia (Case records from the Warsaw Neurologic Clinic

scientific article published on April 15, 1971

Some clinical problems of myasthenia gravis based on an analysis of cases at the Department of Neurology in Warsaw

scientific article published on May 1, 1970

Some clinical problems of myasthenia in the light of studies on the material of the Department of Neurology, Medical Academy in Warsaw

scientific article published on 01 January 1970

Some remarks on computer-aided clinical electromyography based on experience with the Polish ANOPS minicomputer

scientific article published in April 1986

Spinal muscle atrophy in the offspring of consanguineous parents

scientific article published on 01 July 1977

Spinal muscular atrophies: how many types?

scientific article published on 01 January 1991

Spinal muscular atrophy

scientific article published on 01 January 1979

Spinal muscular atrophy of childhood at the edge of the centuries

scientific article

Spinal muscular atrophy: a delayed development hypothesis

scientific article

Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease ⬇️

scientific article published on December 1, 1974

Spontaneous motor unit firing in spinal muscular atrophy of childhood.

scientific article published in August 1987

Spontaneous volleys of bizarre high frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part 1. Occurrence of spontaneous volleys of b.h.f.p. in neuro-muscular diseases.

scientific article

Spontaneous volleys of bizarre high-frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part II. An analysis of the morphology of spontaneous volleys of bizarre high-frequency potentials in neuro-muscular diseases

scientific article published on 01 August 1974

Statistical analysis of tremor power spectra in spinal muscular atrophy patients

scientific article published in September 1985

Studies of healthy relatives of patients with Duchenne muscular dystrophy ⬇️

scientific article

Sympathetic skin response in scleroderma

scientific article published on 01 December 1991

Sympathetic skin response in scleroderma, scleroderma overlap syndromes and inflammatory myopathies

scientific article published on 01 January 1999

Symposium on myasthenia. Conclusion

scientific article published on 01 May 1970

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

The Emery-Dreifuss disease

scientific article published on 01 January 1988

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

scientific article published on 20 October 2015

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

scientific article

The SIIR index--a non-linear combination of waveform size and irregularity parameters for classification of motor unit potentials

scientific article published on 25 December 2004

The analysis of EMG findings in amyotrophic lateral sclerosis.

scientific article published in April 1977

The analysis of single EMG potentials by means of multivariate methods

scientific article published on 01 March 1980

The application of the nearest neighbor decision rule in the evaluation of electromyogram in spinal muscular atrophy (SMA) of childhood

scientific article published on 01 December 1986

The bioelectric action of the muscles in scleroderma generalisata

scientific article published on 01 January 1969

The diagnostic yield of automatic EMG analysis in neuromuscular diseases

scientific article published in January 1988

The effect of cold on nerve conduction of human slow and fast nerve fibers

scientific article published on 01 November 1973

The effect of insulin on msucles and subcutis in diabetic rabbits

scientific article published on 01 April 1967

The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus

scientific article

The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles

scientific article

The need for computer-aided electromyography

scientific article published in January 1988

The parallel and the common k-NN rules for an analysis of electromyograms in spinal muscular atrophy of childhood

scientific article published on 01 October 1992

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

scientific article published in January 2001

The subclinical facial nerve involvement in generalized neuropathies

scientific article published on 01 June 1987

The value of automatic analysis for quantitative electromyography

scientific article published on March 1, 1979

Theoretical basis of the current therapy of myasthenia

scientific article published on 01 November 1969

Three-year observation of a myasthenic syndrome concurrent with other autoimmune syndromes in a patient with thymoma ⬇️

scientific article published in September 1969

Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.

scientific article published on 7 January 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD) ⬇️

scientific article published on July 15, 1998

Unaffected patients with a homozygous absence of the SMN1 gene

scientific article published on 12 March 2008

Unusual course of nemaline myopathy

scientific article published on 01 January 1992

Use of electromyography in the diagnosis of muscle diseases

scientific article published on 01 May 1961

Use of elementary electromyography in the diagnosis of neuromuscular diseases

scientific article published in January 1967

What is really important in MUAP--is it its shape?

scientific article published on January 1996

X-linked adult form of spinal muscular atrophy ⬇️

scientific article published on 01 January 1983

[A trial of cronassial use in late postpoliomyelitis syndrome]

scientific article published on 01 September 1990

[Advances in neuromyology]

scientific article published on 01 December 1971

[Application of the Polish-built computer Anops for the recording of histogram of muscle action potentials' duration]

scientific article published on 01 January 1971

[Apropos of heredofamilial juvenile muscular atrophy.]

scientific article published on 01 January 1962

[Bio-electrical activity of skeletal muscles in renal insufficiency with hyperpotassemia]

scientific article published on 01 January 1962

[Buchthal's method for the evaluation of a motor unit.]

scientific article published on 01 March 1962

[Changes in the neural conduction in spinal muscular atrophy of the Kennedy type]

scientific article published on 01 July 1989

[Changes in the peripheral nerves in chronic renal failure]

scientific article published on 01 February 1986

[Charcot-Marie-Tooth disease]

scientific article published on 01 January 1966

[Clinical-genetic studies of infantile and juvenile proximal spinal muscular atrophy]

scientific article published on 01 January 1994

[Conduction bloc in peripheral nerves. Facts and hypotheses]

scientific article published on 01 March 1994

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]

scientific article published on 01 July 1993

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]

scientific article published on 01 November 1999

[Detection of rare mutations in the dystrophin gene]

scientific article published on 01 April 2009

[Diagnostic value of the electromyography in myopathies]

scientific article published on 01 January 1982

[Diagnostic yield of electrophysiological and immunological studies in inflammatory myopathies]

scientific article published on 01 January 1994

[EMG in spinal atrophies]

scientific article published on 01 January 1969

[Electrocardiographic changes in progressive muscular dystrophy]

scientific article published on 01 September 1965

[Electromyographic studies in circumscribed sclerema.]

scientific article published on 01 February 1961

[Electromyographic studies in generalized sclerema.]

scientific article published on 01 February 1961

[Electromyographic studies in lead poisoning.]

scientific article published on 01 September 1962

[Electrophysiological studies in polyneuropathies. Comparison between changes in sensory and motor nerve fibers]

scientific article published on 01 March 1974

[Experience of the Warsaw Neurological Clinic in detection of muscular dystrophy gene carriers]

scientific article published on 01 January 1980

[Facilitation of the motor functions of the paretic hand]

scientific article published on 01 March 1958

[Genetic characteristics of spinal muscular atrophy]

scientific article published on 01 March 1987

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]

scientific article published on 01 March 2004

[Hereditary hypersensitivity of the peripheral nerves to pressure]

scientific article published on 01 May 1981

[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]

scientific article published on 01 October 2002

[Interaction of symmetrical motor functions. (Further studies)]

scientific article published on 01 March 1962

[MYOPATHIES.]

scientific article published on 01 September 1964

[Malignant hyperthermia]

scientific article published on 01 September 1976

[Muscular changes during the course of experimental administration of triamcinolone.]

scientific article published on 01 July 1962

[Myopathy in a 19-year old girl diagnosed post mortem as glycogenosis]

scientific article published on 01 January 1968

[Neuroimmunology at the turn of the century: a prologue to the 21st century]

scientific article published on 01 July 2001

[On the nosological role of the scapulo-peroneal syndrome]

scientific article published on 01 January 1962

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]

scientific article published on 01 July 2004

[Problem of anticoagulant therapy in clinical neurology]

scientific article published on 01 September 1960

[Progress in heterozygote detection in muscular dystrophy]

scientific article published on 01 January 1981

[Studies on so-called insulin lipodystrophy]

scientific article published on 01 August 1966

[THE LEVEL OF POTASSIUM IN DYSTROPHIC MUSCLES]

scientific article published on 01 July 1963

[The current status of studies on the prevention of Duchenne dystrophy]

scientific article published on 01 October 1987

[The phenomenon of interaction of the symmetric motor function]

scientific article published on 01 November 1957

[The present state of research of experimental demyelinization]

scientific article published on 01 May 1958

[The problem of mixed forms of muscular diseases]

scientific article published on 01 November 1962

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