| 1 |
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
25
|
Kernohan KD...Warman Chardon J
|
28251733 |
2017 |
| 2 |
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.
25
|
He X...Schuchman EH
|
28275553 |
2017 |
| 3 |
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
25
|
Oguz Akarsu E...Baykan B
|
27723502 |
2016 |
| 4 |
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
25
|
Filosto M...Padovani A
|
27026573 |
2016 |
| 5 |
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.
25
|
Teoh HL...Sampaio H
|
27650050 |
2016 |
| 6 |
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
25
|
Bonafe L...Superti-Furga A
|
26945816 |
2016 |
| 7 |
Spinal muscular atrophy associated with progressive myoclonus epilepsy.
25
|
Topaloglu H...Melki J
|
27647482 |
2016 |
| 8 |
Nervous system involvement in Farber disease.
25
|
Cappellari AM...Corona F
|
26373951 |
2016 |
| 9 |
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
25
|
Gan JJ...Pierson TM
|
26526000 |
2015 |
| 10 |
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
25
|
Rubboli G...Michelucci R
|
25847462 |
2015 |
| 11 |
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
25
|
Dyment DA...Boycott KM
|
24164096 |
2014 |
| 12 |
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
25
|
Bashyam MD...Danda S
|
24355074 |
2014 |
| 13 |
Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.
25
|
Jarisch A...Bader P
|
23881344 |
2014 |
| 14 |
Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.
25
|
Torcoletti M...Corona F
|
24614645 |
2014 |
| 15 |
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
25
|
Stenson PD...Cooper DN
|
24077912 |
2014 |
| 16 |
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis.
25
|
Kostik MM...Levade T
|
23385296 |
2013 |
| 17 |
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.
25
|
Alves MQ...Ribeiro MG
|
23707712 |
2013 |
| 18 |
Systemic ceramide accumulation leads to severe and varied pathological consequences.
25
|
Alayoubi AM...Medin JA
|
23681708 |
2013 |
| 19 |
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
25
|
Zhou J...Melki J
|
22703880 |
2012 |
| 20 |
A novel mutation in an atypical presentation of the rare infantile Farber disease.
25
|
Al Jasmi F
|
21982811 |
2012 |
| 21 |
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
25
|
Chedrawi AK...Kaya N
|
21893389 |
2012 |
| 22 |
Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates.
25
|
Walia JS...Medin JA
|
21280983 |
2011 |
| 23 |
In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease.
25
|
Ramsubir S...Medin JA
|
18805722 |
2008 |
| 24 |
Autoproteolytic cleavage and activation of human acid ceramidase.
25
|
Shtraizent N...Schuchman EH
|
18281275 |
2008 |
| 25 |
Farber disease: clinical presentation, pathogenesis and a new approach to treatment.
25
|
Ehlert K...Vormoor J
|
17603888 |
2007 |
| 26 |
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
25
|
Bar J...Sandhoff K
|
11241842 |
2001 |
| 27 |
Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).
25
|
Yeager AM...Moser HW
|
10967581 |
2000 |
| 28 |
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
25
|
Li CM...Schuchman EH
|
10610716 |
1999 |
| 29 |
First case of surgical treatment of Farber's disease.
25
|
Haraoka G...Hayashi I
|
9339283 |
1997 |
| 30 |
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.
25
|
Kattner E...Harzer K
|
9128814 |
1997 |
| 31 |
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
25
|
Koch J...Sandhoff K
|
8955159 |
1996 |
| 32 |
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells.
25
|
Levade T...Salvayre R
|
8747852 |
1995 |
| 33 |
Farber disease with prolonged survival.
25
|
Fiumara A...Moser HW
|
8295420 |
1993 |
| 34 |
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement.
25
|
Koga M...Fujiwaki T
|
1557987 |
1992 |
| 35 |
Farber's disease (lysosomal acid ceramidase deficiency).
25
|
Jameson RA...Keen JH
|
3662645 |
1987 |
| 36 |
Farber disease: pathologic diagnosis in sibs with phenotypic variability.
25
|
Qualman SJ...Zinkham WH
|
3130860 |
1987 |
| 37 |
Farber lipogranulomatosis: an unusual presentation in a black child.
25
|
Eviatar L...Gochoco A
|
2854742 |
1986 |
| 38 |
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease).
25
|
Cartigny B...Farriaux JP
|
3921761 |
1985 |
| 39 |
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects.
25
|
Burck U...Held KR
|
3987715 |
1985 |
| 40 |
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives.
25
|
Pavone L...Durand P
|
7441940 |
1980 |
| 41 |
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease).
25
|
Schmoeckel C
|
7246981 |
1980 |
| 42 |
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course.
25
|
Samuelsson K...Zetterstrom R
|
5109101 |
1971 |
| 43 |
Retinopathy in a case of Farber's lipogranulomatosis.
25
|
Cogan DG...Hazard GW
|
5936802 |
1966 |
| 44 |
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material.
25
|
ABUL-HAJ SK...GEPPERT LJ
|
13859108 |
1962 |
| 45 |
A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease.
25
|
FARBER S
|
12975849 |
1952 |
| 46 |
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
61
|
Mahmoud IG...Selim L
|
32875576 |
2020 |
| 47 |
ASAH1-Related Disorders
61
|
Dyment DA...Levade T
|
29595935 |
2018 |
