S. Penttilä

发表

Atypical phenotypes in titinopathies explained by second titin mutations

I. Richard, B. Eymard, R. Rojas-García, 2014, Annals of neurology.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

J. Pouget, G. Tasca, B. Udd, 2017, Molecular Neurobiology.

G.P.323 Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

B. Udd, P. Hackman, A. Evilä, 2015, Neuromuscular Disorders.

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

H. Haapasalo, B. Udd, J. Palmio, 2011, Neuromuscular Disorders.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

A. Federico, A. Malandrini, M. Dotti, 2010, Journal of Neurology.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

A. Echaniz-Laguna, G. Bierry, G. Rudolf, 2016, Journal of neuromuscular diseases.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Robert H. Brown, J. Landers, G. Ravenscroft, 2011, American journal of human genetics.

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

B. Udd, S. Penttilä, C. Mazia, 2016, Neurology: Genetics.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

B. Udd, J. Palmio, H. Tyynismaa, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

T. Maisonobe, O. Dubourg, B. Eymard, 2011, Journal of Neurology.

G.P.78 A Finnish mutation in SCN4A gene causes predominantly myalgic phenotype

B. Udd, J. Palmio, S. Sandell, 2015, Neuromuscular Disorders.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

M. Hauser, N. Katsanis, J. Stajich, 2012, Nature Genetics.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

K. Claeys, T. Stojkovic, W. Kress, 2019, Journal of Neurology.

G.O.16 Differential isoform expression and selective muscle involvement in muscular dystrophies

P. Somervuo, P. Auvinen, K. Pelin, 2015, Neuromuscular Disorders.

TARDBP mutations are not a frequent cause of ALS in Finnish patients

B. Udd, J. Palmio, S. Penttilä, 2012, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

S. Schorge, H. Haapasalo, M. Hanna, 2012, Neurology.

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

G. Meola, G. Novelli, B. Udd, 2012, Journal of Neurology.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

L. Waddell, N. Clarke, G. Tasca, 2012, Neurology.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

B. Udd, J. Palmio, O. Raheem, 2016, PloS one.

S. Penttilä, Manu Jokela, B. Udd, 2015 .

Reply: To PMID 25428574.

S. Penttilä, Manu Jokela, B. Udd, 2015, Annals of neurology.

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis

R. Soikkeli, S. Jääskeläinen, B. Udd, 2015, Journal of the Neurological Sciences.

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10

B. Udd, S. Penttilä, A. Saukkonen, 2015, Annals of neurology.

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

B. Udd, G. Solders, J. Palmio, 2015, Neuromuscular Disorders.

Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy

S. Mercier, Y. Péréon, B. Isidor, 2015, Muscle & nerve.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

C. Weihl, B. Udd, J. Palmio, 2019, Neurology: Genetics.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

M. Hanna, B. Udd, J. Palmio, 2017, Neurology.

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2

B. Udd, P. Hackman, S. Penttilä, 2012, European Journal of Human Genetics.

Late-onset lower motor neuronopathy

B. Udd, P. Hackman, S. Penttilä, 2011, Neurology.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

New phenotype and pathology features in MYH7-related distal myopathy

E. Ricci, G. Tasca, B. Udd, 2012, Neuromuscular Disorders.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

D. MacArthur, M. Lek, L. Waddell, 2016, Neurology.

ANO5-Related Muscle Diseases

B. Udd, J. Palmio, S. Penttilä, 2012 .

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

B. Udd, J. Palmio, J. Moilanen, 2016, Clinical case reports.

Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita

S. Frank, D. Fischer, B. Udd, 2011, Acta neurologica Scandinavica.

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

B. Brais, I. Richard, B. Eymard, 2018, Neuropathology and applied neurobiology.

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

B. Udd, S. Penttilä, P. Baumann, 2019, Journal of neuromuscular diseases.

Late-onset spinal motor neuronopathy – A common form of dominant SMA

B. Udd, C. Lindberg, S. Penttilä, 2014, Neuromuscular Disorders.

Camptocormia as presenting sign in myofibrillar myopathy

B. Udd, A. M. Paula, G. Castelnovo, 2012, Neuromuscular Disorders.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

L. Waddell, N. Clarke, G. Tasca, 2012, Neurology.