A. Chaouch

发表

Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants

K. Bushby, F. Muntoni, S. Böhringer, 2014 .

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

P. ’. ‘t Hoen, Hanns Lochmüller, M. Hiller, 2014, Proteomics. Clinical applications.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

E. Hoffman, A. Pestronk, R. Abresch, 2020, European Journal of Human Genetics.

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

G. V. Ommen, J. D. Dunnen, Hanns Lochmüller, 2011, Neuromuscular Disorders.

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene

P. Sindou, J. Vallat, D. Grid, 2003, Neuromuscular Disorders.

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Hanns Lochmüller, N. Barišić, Juliane S. Müller, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot‐Marie‐Tooth Subtype CMT2B1 in Families from North Western Africa

E. Génin, N. Lévy, D. Grid, 2008, Annals of human genetics.

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

Hanns Lochmüller, M. Wagner, T. Polvikoski, 2013, Neuromuscular Disorders.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

E. Stålberg, Hanns Lochmüller, A. Barois, 2014, Brain : a journal of neurology.

Two recurrent mutations are associated with GNE myopathy in the North of Britain

K. Bushby, P. Chinnery, Hanns Lochmüller, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

K. Bushby, A. De Grassi, Jacqueline A Palace, 2016, Journal of neuromuscular diseases.

The clinical and genetic characteristics of congenital myasthenic syndromes

A. Chaouch, 2014 .

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Francesco Muntoni, Alessandra Ferlini, Stefan Böhringer, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

E. Hoffman, A. Pestronk, R. Abresch, 2020, European Journal of Human Genetics.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

E. Bertini, F. Pontén, M. Uhlén, 2014, EMBO molecular medicine.

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.

J. Beckmann, J. Weissenbach, A. Vignal, 1993, Human molecular genetics.

Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

S. Rollinson, J. Snowden, J. Thompson, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients

H. Lochmüller, A. Huebner, C. Gallenmüller, 2012, Human mutation.

Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

M. Macleod, S. Chandran, J. Chataway, 2021, Brain communications.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

H. Lochmüller, V. Rakocevic-Stojanovic, J. Colomer, 2012, Journal of Neurology.

Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series

J. Ealing, H. Hamdalla, A. Chaouch, 2023, Journal of Medical Genetics.

The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia

J. Snowden, J. Thompson, A. Richardson, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Hanns Lochmüller, D. Beeson, D. Hantaı̈, 2012, Neuromuscular Disorders.

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

H. Lochmüller, L. Werneck, P. Lorenzoni, 2013, Journal of the Neurological Sciences.

Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series

C. Kobylecki, A. Chaouch, Jeremy Boardman, 2022, Movement disorders clinical practice.

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

Hanns Lochmüller, D. Beeson, Wei-Wei Liu, 2014, Neuromuscular Disorders.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

E. Stålberg, Hanns Lochmüller, A. Barois, 2014, Brain : a journal of neurology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations Velina GuergueltchevaJuliane S. MullerMarina DuslJan SenderekAnders Oldfors • Christopher LindberghSusan MaxwellJaume ColomerCecilia Jimenez MallebreraAndres Nascimento • Juan J. VilchezNuria MuelasJanbernd KirschnerSha

K. Bushby, J. Senderek, M. Dusl, 2012 .