M. Dusl

发表

Transcriptional regulator PRDM12 is essential for human pain perception

David L. Bennett, Andreas C. Themistocleous, I. Katona, 2015, Nature Genetics.

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

F. Baas, E. Aronica, S. Rudnik-Schöneborn, 2017, Brain : a journal of neurology.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

P. Bauer, J. Senderek, T. Klopstock, 2020, International journal of molecular sciences.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

H. Lochmüller, T. Evangelista, J. Colomer, 2016, Neuromuscular Disorders.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline Palace, S. Banka, E. Zanoteli, 2019 .

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.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hanns Lochmüller, Angela Abicht, Hanns Lochmüller, 2015, Human molecular genetics.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline A Palace, S. Banka, E. Zanoteli, 2019, Brain : a journal of neurology.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

A. Blaschek, H. Lochmüller, A. Huebner, 2014, Neuromuscular Disorders.

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.

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

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

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

Cardiac differentiation in Xenopus is initiated by mespa.

R. Rupp, M. Dusl, W. Franz, 2013, Cardiovascular research.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Hanns Lochmüller, Teresinha Evangelista, Angela Abicht, 2017, Journal of Neurology.

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

P. Ernfors, J. Senderek, L. Croci, 2019, Cell reports.

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.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hanns Lochmüller, J. Senderek, R. Stucka, 2015, Human molecular genetics.

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 .