Published in Brain on April 01, 1990
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11
ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. Proc Natl Acad Sci U S A (1998) 1.95
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci (2012) 1.44
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest (2008) 1.37
SAG, a novel zinc RING finger protein that protects cells from apoptosis induced by redox agents. Mol Cell Biol (1999) 1.32
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet (2011) 1.24
Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet (2009) 1.09
Deficiency of the Bax gene attenuates denervation-induced apoptosis. Apoptosis (2006) 0.93
Spinal Muscular Atrophy Therapeutics: Where do we Stand? Neurotherapeutics (2015) 0.86
Modulation of antioxidant enzymes and apoptosis in mice by dietary lipids and treadmill exercise. J Clin Immunol (1999) 0.82
Spinal muscular atrophy: from tissue specificity to therapeutic strategies. F1000Prime Rep (2015) 0.82
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet (1999) 2.04
Desmin myopathy. Brain (2004) 1.79
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A (1996) 1.44
Cytokine expression profile in idiopathic inflammatory myopathies. J Neuropathol Exp Neurol (1996) 1.34
Ultrastructure of human and experimental ependymomas. A comparative study. J Neuropathol Exp Neurol (1972) 1.31
Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr (1986) 1.28
Neuromyopathy and vitamin E deficiency in man. Neuropediatrics (1981) 1.26
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord (2000) 1.22
Consequences of mutations within the C terminus of the FHL1 gene. Neurology (2009) 1.18
Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study. J Neuropathol Exp Neurol (1973) 1.13
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (1987) 1.13
Myopathy associated with Marfan's syndrome. Fine structural and histochemical observations. Neurology (1973) 1.12
Tumor-like amyloid formation (amyloidoma) in the brain. J Neurol (1981) 1.10
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. Acta Neuropathol (1981) 1.10
Inclusion body myositis presenting with isolated erector spinae paresis. Neurology (1995) 1.10
Alcohol-related acute axonal polyneuropathy: a differential diagnosis of Guillain-Barré syndrome. Arch Neurol (1998) 1.10
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics (2002) 1.09
A mutation in myotilin causes spheroid body myopathy. Neurology (2005) 1.07
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology (2003) 1.07
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. J Neurol Neurosurg Psychiatry (1975) 1.07
Lesions of the pontine tegmentum and conjugate gaze paralysis. Arch Neurol (1971) 1.06
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve (1983) 1.04
Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol (1980) 1.03
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (1983) 1.03
On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis. Mech Ageing Dev (1979) 1.02
An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis. Am J Ophthalmol (1977) 0.99
Rigid spine syndrome in a girl. J Neurol (1982) 0.99
Human ontogenesis. 3. Cell death in fetal muscle. Acta Neuropathol (1991) 0.99
Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet (2000) 0.99
Congenital myopathies--a comprehensive update of recent advancements. Acta Neurol Scand (2009) 0.98
Studies on GM1-gangliosidosis, type II. Acta Neuropathol (1974) 0.98
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur J Pediatr (1985) 0.97
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci (2003) 0.97
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. J Inherit Metab Dis (1993) 0.96
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics (1988) 0.96
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. Neuropediatrics (1991) 0.96
Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet (1992) 0.96
Increased ammonia production during forearm ischemic work test in McArdle's disease. Klin Wochenschr (1981) 0.96
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am J Med Genet (1998) 0.95
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology (2010) 0.95
Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie (1977) 0.95
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. Neuropadiatrie (1976) 0.95
Diagnostic immunohistochemistry in neuromuscular disorders. Histopathology (2005) 0.94
DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies. Neuropathol Appl Neurobiol (1997) 0.93
Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies. Neurology (1978) 0.93
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). Clin Neuropathol (1982) 0.93
Macrophages in multiple sclerosis. Immunobiology (1996) 0.92
Apoptosis-related proteins in skeletal muscle fibers of spinal muscular atrophy. J Neuropathol Exp Neurol (1997) 0.92
DNA-fragmentation and expression of apoptosis-related proteins in experimentally denervated and reinnervated rat facial muscle. Neuropathol Appl Neurobiol (1997) 0.92
Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V. Acta Neuropathol (1979) 0.92
Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the dalmatian dog. Acta Neuropathol (1985) 0.92
Congenital myopathy with cytoplasmic bodies. Neuropediatrics (1981) 0.92
The ultrastructural variability of non-specific lipopigments. Acta Neuropathol (1979) 0.92
Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord (1997) 0.92
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. Ann N Y Acad Sci (1995) 0.91
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. Acta Neuropathol (1997) 0.91
Cell death and oxidative damage in inflammatory myopathies. Clin Immunol Immunopathol (1998) 0.91
Autosomal dominant "spheroid body myopathy". Muscle Nerve (1979) 0.91
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology (2001) 0.90
Inflammatory myopathies. Curr Opin Neurol (1996) 0.90
The fine structure of the retina in neuronal ceroid-lipofuscinosis. Am J Ophthalmol (1974) 0.90
Dense core vesicles in the desmoplastic variant of cerebral neuroblastoma. Acta Neuropathol (1980) 0.90
Ultrastructural pathology in emetine-induced myopathy. Acta Neuropathol (1988) 0.90
A mild juvenile variant of type IV glycogenosis. Brain Dev (1992) 0.90
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology (2005) 0.89
Mitochondrial myopathy--a result of clofibrate/etofibrate treatment? Case report. Acta Neuropathol (1985) 0.88
Adult metachromatic leukodystrophy. III. Clinical course, final stages and first biochemical results. Eur Neurol (1980) 0.88
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol (Paris) (1995) 0.88
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. Neuropediatrics (2010) 0.88
Central pontine myelinolysis. A clinical and pathological study of 10 cases. Brain (1972) 0.88
Rectal biopsy findings in infantile neuroaxonal dystrophy. Neuropediatrics (1980) 0.88
Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. Neuropadiatrie (1980) 0.88
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report. J Neurol (1981) 0.88
Amyloidoma of the gasserian ganglion as a cause of symptomatic neuralgia of the trigeminal nerve: report of three cases. J Neurol (1993) 0.87
Expression of cell adhesion molecules in inflammatory myopathies. J Neuroimmunol (1995) 0.87
Schwannoma of the sellar region. Acta Neurochir (Wien) (1979) 0.87
Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state. Eur Neurol (1977) 0.87
Dense core mitochondria in peripheral ganglia of man. Acta Neuropathol (1976) 0.87
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle. Eur J Cell Biol (1999) 0.86
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. J Neurol Sci (1994) 0.86
DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders. Acta Neurol Scand (1997) 0.86
The forearm ischaemic work test--hazardous to McArdle patients? J Neurol Neurosurg Psychiatry (1982) 0.86
Biological characteristics of peripheral nerve tumors induced with ethylnitrosourea. Acta Neuropathol (1973) 0.86
A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions. Brain Dev (1983) 0.85
Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinoses. Brain Dev (1979) 0.85
[Acute renal failure in alcoholic myopathy (author's transl)]. Dtsch Med Wochenschr (1979) 0.85
A form of congenital muscular dystrophy. Brain Dev (1980) 0.85
Focal myositis of the temporal muscle. Muscle Nerve (1993) 0.85
Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol (1998) 0.85
Morphologic and chemical biopsy findings in mucolipidosis IV. Clin Neuropathol (1982) 0.84
Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). Ann Neurol (1979) 0.84
"Infantile" subacute necrotizing encephalopathy in the adult. Neurology (1969) 0.84
Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis. Neuromuscul Disord (1999) 0.84
Infantile intranuclear rod myopathy. J Child Neurol (1997) 0.83
Myxoma of the orbit: a clinicopathologic report. Graefes Arch Clin Exp Ophthalmol (1990) 0.83
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. Neurology (1998) 0.83
Internalized myofiber capillaries: observations on their origin and clinical features. Muscle Nerve (1989) 0.83