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Showing 1–17 of 17 results

Advanced filters: Author: F C Kugelberg Clear advanced filters

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

L. M. Brzustowicz
T. Lehner
T. C. Gilliam
Research05 Apr 1990
Nature

Volume: 344, P: 540-541
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

J. Melki
S. Abdelhak
J. Frezal
Research19 Apr 1990
Nature

Volume: 344, P: 767-768
Genetic regulation of resistance to intracellular pathogens

Emil Skamene
Philippe Gros
Benjamin A. Taylor
Research10 Jun 1982
Nature

Volume: 297, P: 506-509
Filaments and ribbons in vertebrate smooth muscle

CATHERINE F. SHOENBERG
JOHN C. HASELGROVE
Research10 May 1974
Nature

Volume: 249, P: 152-154
Human myasthenic sera reduce acetylcholine sensitivity of human muscle cells in tissue culture

S. BEVAN
R. W. KULLBERG
S. F. HEINEMANN
Research19 May 1977
Nature

Volume: 267, P: 263-265
The total absence of atrial automaticity in a child with sinus node dysfunction

Fabrizio Drago
Giovanni Fazio
Massimo Stefano Silvetti
Reviews01 Sept 2007
Nature Clinical Practice Cardiovascular Medicine

Volume: 4, P: 513-517
Spinal muscular atrophy — insights and challenges in the treatment era

In this Review, the authors discuss how new therapies are changing the field of spinal muscular atrophy. They consider the effects of treatment at different stages of the disease, what treatment effects tell us about the disease and the challenges facing the field in the treatment era.

Eugenio Mercuri
Maria Carmela Pera
Francesco Muntoni
Reviews14 Oct 2020
Nature Reviews Neurology

Volume: 16, P: 706-715
Thymus medulla consisting of epithelial islets each derived from a single progenitor

Hans-Reimer Rodewald
Sabine Paul
Carmen Blum
Research13 Dec 2001
Nature

Volume: 414, P: 763-768
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

Eva Also-Rallo
Laura Alías
Eduardo F Tizzano
Research25 May 2011
European Journal of Human Genetics

Volume: 19, P: 1059-1065
Inherited Motor Neuron Disease in Domestic Cats: A Model of Spinal Muscular Atrophy

Qianchuan He
Charles Lowrie
John C Fyfe
Research01 Mar 2005
Pediatric Research

Volume: 57, P: 324-330
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

Joanne E Taylor
Neil H Thomas
Christopher G Mathew
Research18 Nov 1998
European Journal of Human Genetics

Volume: 6, P: 467-474
Prenatal Prediction of Spinal Muscular Atrophy

J. M. Cobben
H. Scheffer
C. H. C. M. Buys
Research01 Jul 1996
European Journal of Human Genetics

Volume: 4, P: 231-236
In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression

A Rashnonejad
C Gündüz
F Özkınay
Research02 Sept 2015
Gene Therapy

Volume: 23, P: 10-17
Best practice guidelines for molecular analysis in spinal muscular atrophy

Hans Scheffer
Jan Maarten Cobben
Brunhilde Wirth
Reviews18 Jul 2001
European Journal of Human Genetics

Volume: 9, P: 484-491
Inhibition of G Protein-Activated Inwardly Rectifying K⁺ Channels by Various Antidepressant Drugs

Toru Kobayashi
Kazuo Washiyama
Kazutaka Ikeda
Research19 May 2004
Neuropsychopharmacology

Volume: 29, P: 1841-1851
Influence of CYP2D6 and CYP2C19 genotypes on venlafaxine metabolic ratios and stereoselective metabolism in forensic autopsy cases

L Karlsson
A-L Zackrisson
F C Kugelberg
Research23 Sept 2014
The Pharmacogenomics Journal

Volume: 15, P: 165-171
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

Clara Serra-Juhe
Eduardo F. Tizzano
ReviewsOpen Access03 May 2019
European Journal of Human Genetics

Volume: 27, P: 1774-1782