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Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada

Revue neurologique, 2008, Vol.164 (1), p.12-21

2008

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Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

Journal of child neurology, 2020-11, Vol.35 (13), p.901-907

2020

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G.P.47

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.808-809

2014

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VP.06 A new case of congenital myopathy related to TNNC2

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S48

2022

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P.290 - A new TNNT1 mutation in a non Amish patient with original muscle pathology findings

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S184-S185

2017

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A new TNNT1 mutation in a non Amish patient with original muscle pathology findings

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S184-S185

2017

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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

Neurology, 2007-11, Vol.69 (20), p.1937

2007

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CONGENITAL MYOPATHIES 1 – NEMALINE

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S55

2020

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CONGENITAL MYOPATHIES 1 – NEMALINE: P.26 A new intronic mutation in nebulin myopathy

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S55-S55

2020

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S48

2018

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.60Respiratory dysfunction in childhood myasthenia

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S48-S48

2018

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AUTOIMMUNE MYOPATHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S133

2020

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AUTOIMMUNE MYOPATHIES: P.297 A case of juvenile HMGCR antibody myositis presenting as limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S133-S133

2020

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P.097 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms

Canadian journal of neurological sciences, 2021-11, Vol.48 (s3), p.S47-S47

2021

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P.07 Characterization of MRI brain abnormalities in X-linked myotubular myopathy

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S46

2022

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Muscle hyperthrophy with RYR1 mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S238-S239

2017

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P.476 - Muscle hyperthrophy with RYR1 mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S238-S239

2017

Volltextzugriff (PDF)

P.131 Outcomes of Nusinersen in adult and pediatric cohorts of spinal muscular amyotrophy after two years of usage at the CHU de Québec-Université Laval

Canadian journal of neurological sciences, 2021-11, Vol.48 (s3), p.S57-S57

2021

Volltextzugriff (PDF)

P.069 Respiratory dysfunction and sleep disordered breathing in children with Myasthenia Gravis

Canadian journal of neurological sciences, 2018-06, Vol.45 (s2), p.S34-S34

2018

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G.P.10.15 Genotype–phenotype correlation and identification of new mutations in non-dystrophic myotonias

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.822-822

2007

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A.3 A novel recessive TNNT1 congenital core-rod myopathy in French Canadians

Canadian journal of neurological sciences, 2022-06, Vol.49 (s1), p.S3-S3

2022

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Hereditary neuropathy with liability to pressure palsies in childhood: case series and update from the literature

Canadian journal of neurological sciences, 2015-05, Vol.42 (S1), p.S15-S15

2015

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A.4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

Canadian journal of neurological sciences, 2021-11, Vol.48 (s3), p.S14-S15

2021

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G.P.5.05 A novel mutation in a French–Canadian family with LGMD1B

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.799-799

2007

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G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.892-892

2007

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Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

G.P.47

VP.06 A new case of congenital myopathy related to TNNC2

P.290 - A new TNNT1 mutation in a non Amish patient with original muscle pathology findings

A new TNNT1 mutation in a non Amish patient with original muscle pathology findings

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

CONGENITAL MYOPATHIES 1 – NEMALINE

CONGENITAL MYOPATHIES 1 – NEMALINE: P.26 A new intronic mutation in nebulin myopathy

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.60Respiratory dysfunction in childhood myasthenia

AUTOIMMUNE MYOPATHIES

AUTOIMMUNE MYOPATHIES: P.297 A case of juvenile HMGCR antibody myositis presenting as limb girdle muscular dystrophy

P.097 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms

P.07 Characterization of MRI brain abnormalities in X-linked myotubular myopathy

Muscle hyperthrophy with RYR1 mutation

P.476 - Muscle hyperthrophy with RYR1 mutation

P.131 Outcomes of Nusinersen in adult and pediatric cohorts of spinal muscular amyotrophy after two years of usage at the CHU de Québec-Université Laval

P.069 Respiratory dysfunction and sleep disordered breathing in children with Myasthenia Gravis

G.P.10.15 Genotype–phenotype correlation and identification of new mutations in non-dystrophic myotonias

A.3 A novel recessive TNNT1 congenital core-rod myopathy in French Canadians

Hereditary neuropathy with liability to pressure palsies in childhood: case series and update from the literature

A.4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

G.P.5.05 A novel mutation in a French–Canadian family with LGMD1B

G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

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