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LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

Annals of neurology, 2015-09, Vol.78 (3), p.412-425

2015

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Human molecular genetics, 2012-05, Vol.21 (10), p.2205-2210

2012

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Recurrence of Susac Syndrome following 23 Years of Remission

Case reports in neurology, 2014-05, Vol.6 (2), p.171-175

2014

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A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease

Journal of anesthesia, 2013-02, Vol.27 (1), p.128-131

2013

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Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia

Case reports in neurology, 2013-01, Vol.5 (3), p.201-203

2013

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Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden

Amyloid, 2009-12, Vol.16 (4), p.208-214

2009

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Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.e270-e270

2014

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.984-985

2012

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Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Brain (London, England : 1878), 2012, Vol.135 (Pt 6), p.1682-1694

2012

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Muscle & nerve, 2011-01, Vol.43 (1), p.144-144

2011

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Bedside diagnosis of rippling muscle disease reply

Muscle & nerve, 2011, Vol.43 (1), p.144

2011

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Muscle & nerve, 2011-01, Vol.43 (1), p.144-144

2011

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Muscle & nerve, 2011-01, Vol.43 (1), p.144-144

2011

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Muscle & nerve, 2011-01, Vol.43 (1), p.144

2011

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L MNB 1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

Annals of neurology, 2015-09, Vol.78 (3), p.412-425

2015

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Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

Human mutation, 2013-04, Vol.34 (4), p.572-577

2013

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Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

The Lancet (British edition), 2004-09, Vol.364 (9437), p.875-882

2004

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Glucose metabolism in the brain in LMNB1‐related autosomal dominant leukodystrophy

Acta neurologica Scandinavica, 2019-02, Vol.139 (2), p.135-142

2019

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1 H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

Neuroradiology, 2013, Vol.55 (8), p.933

2013

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Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

Stereotactic and functional neurosurgery, 2019-01, Vol.97 (1), p.18

2019

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Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

Neuromuscular disorders : NMD, 2011-02, Vol.21 (2), p.115-120

2011

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1H-MR spectroscopy only shows elevated water content in adult onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

European journal of neurology, 2012, Vol.19 (S1), p.401

2012

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Reply to Brodehl et al

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.590-590

2013

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Functional characterization of desmin mutant p.P419S Reply

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.590

2013

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O151-Longitudinal MRI Study of the Spinal Cord in Lamin B1 Autosomal Dominant Leukodystrophy: Do the first symptoms come from the spinal cord?

Neuroradiology, 2014, Vol.56 (Suppl 1), p.S246

2014

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LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Recurrence of Susac Syndrome following 23 Years of Remission

A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease

Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia

Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Reply

Bedside diagnosis of rippling muscle disease reply

Reply

Reply

Reply

L MNB 1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Glucose metabolism in the brain in LMNB1‐related autosomal dominant leukodystrophy

1 H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

1H-MR spectroscopy only shows elevated water content in adult onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

Reply to Brodehl et al

Functional characterization of desmin mutant p.P419S Reply

O151-Longitudinal MRI Study of the Spinal Cord in Lamin B1 Autosomal Dominant Leukodystrophy: Do the first symptoms come from the spinal cord?

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