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Jan Senderek

Showing results (31-40 of 104) with videos related to

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Clinical Neuropathology|June 3, 2014
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2EMiriam Elbracht, Jan Senderek, Ulrike Schara, et al.
Journal of the Peripheral Nervous System : JPNS|February 14, 2015
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axonsAndreas Roos, Joachim Weis, Rudolf Korinthenberg, et al.
Neurology|October 3, 2014
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrumBurkhard Gess, Michaela Auer-Grumbach, Anja Schirmacher, et al.
The Journal of Investigative Dermatology|October 5, 2007
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank, et al.
Neuromuscular Disorders : NMD|May 9, 2015
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutationMaggie C Walter, Martina Rossius, Manuela Zitzelsberger, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Frank Schneider, et al.
Annals of Neurology|August 27, 2014
Phenotype of matrin-3-related distal myopathy in 16 German patientsTobias J Müller, Torsten Kraya, Gisela Stoltenburg-Didinger, et al.
Molecular Diagnosis & Therapy|June 15, 2006
Diagnosis, pathogenesis, and treatment prospects in cystic kidney diseaseCarsten Bergmann, Valeska Frank, Fabian Küpper, et al.
International Journal of Molecular Sciences|May 31, 2020
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar AtaxiaClaudia Stendel, Maria Cristina D'Adamo, Manuela Wiessner, et al.
Proteomics. Clinical Applications|October 15, 2016
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysisEva Brauers, Andreas Roos, Laxmikanth Kollipara, et al.
Pageof 11

Showing results (31-40 of 104) with videos related to

Sort By:
Pageof 11
Clinical Neuropathology|June 3, 2014
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2EMiriam Elbracht, Jan Senderek, Ulrike Schara, et al.
Journal of the Peripheral Nervous System : JPNS|February 14, 2015
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axonsAndreas Roos, Joachim Weis, Rudolf Korinthenberg, et al.
Neurology|October 3, 2014
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrumBurkhard Gess, Michaela Auer-Grumbach, Anja Schirmacher, et al.
The Journal of Investigative Dermatology|October 5, 2007
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank, et al.
Neuromuscular Disorders : NMD|May 9, 2015
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutationMaggie C Walter, Martina Rossius, Manuela Zitzelsberger, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Frank Schneider, et al.
Annals of Neurology|August 27, 2014
Phenotype of matrin-3-related distal myopathy in 16 German patientsTobias J Müller, Torsten Kraya, Gisela Stoltenburg-Didinger, et al.
Molecular Diagnosis & Therapy|June 15, 2006
Diagnosis, pathogenesis, and treatment prospects in cystic kidney diseaseCarsten Bergmann, Valeska Frank, Fabian Küpper, et al.
International Journal of Molecular Sciences|May 31, 2020
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar AtaxiaClaudia Stendel, Maria Cristina D'Adamo, Manuela Wiessner, et al.
Proteomics. Clinical Applications|October 15, 2016
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysisEva Brauers, Andreas Roos, Laxmikanth Kollipara, et al.
Pageof 11